DOCSLIB.ORG

Case 40-2017: a 32-Year-Old Woman with Headache, Abdominal Pain, Anemia, and Thrombocytopenia

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Case 40-2017: a 32-Year-Old Woman with Headache, Abdominal Pain, Anemia, and Thrombocytopenia The new england journal of medicine Case Records of the Massachusetts General Hospital Founded by Richard C. Cabot Eric S. Rosenberg, M.D., Editor Virginia M. Pierce, M.D., David M. Dudzinski, M.D., Meridale V. Baggett, M.D., Dennis C. Sgroi, M.D., Jo-Anne O. Shepard, M.D., Associate Editors Allison R. Bond, M.D., Case Records Editorial Fellow Emily K. McDonald, Sally H. Ebeling, Production Editors Case 40-2017: A 32-Year-Old Woman with Headache, Abdominal Pain, Anemia, and Thrombocytopenia David B. Sykes, M.D., Ph.D., Rachel P. Rosovsky, M.D., Aneesh B. Singhal, M.D., R. Gilberto Gonzalez, M.D., Ph.D., and Andrea P. Moy, M.D.​​ Presentation of Case Dr. Emer McGrath (Neurology): A 32-year-old woman was admitted to this hospital From the Departments of Medicine in the fall because of severe headache and loss of peripheral vision. (D.B.S., R.P.R.), Neurology (A.B.S.), Radi- ology (R.G.G.), and Pathology (A.P.M.), The patient had been in her usual state of health until 4 weeks before admission Massachusetts General Hospital, and to this hospital, when she underwent elective termination of pregnancy with the Departments of Medicine (D.B.S., methotrexate. The pregnancy had occurred despite the presence of an intrauterine R.P.R.), Neurology (A.B.S.), Radiology (R.G.G.), and Pathology (A.P.M.), Harvard device, and the device was removed a few days after the termination. Oral contra- Medical School — both in Boston. ception was initiated. N Engl J Med 2017;377:2581-90. Three weeks later and 1 week before admission to this hospital, pain in the left DOI: 10.1056/NEJMcpc1710566 upper quadrant, vaginal bleeding, and headache developed. The patient was ad- Copyright © 2017 Massachusetts Medical Society. mitted to another hospital. The blood level of human chorionic gonadotropin was 24 IU per liter (normal range, <6 IU per liter); the level had been 21,000 IU per liter 3 weeks earlier, when she was pregnant. Blood levels of electrolytes, glucose, amylase, lipase, total protein, and albumin were normal, as were results of renal- function tests, the prothrombin time, the international normalized ratio, and the partial-thromboplastin time. An examination of a peripheral-blood smear for ba- besia and a direct antiglobulin test were negative; other laboratory test results are shown in Table 1. Imaging studies were obtained. Dr. R. Gilberto Gonzalez: Computed tomography (CT) of the abdomen and pelvis (Fig. 1), performed after the administration of intravenous contrast material, revealed splenomegaly (spleen length, 15.6 cm in the craniocaudal dimension; normal range, ≤12 cm), as well as a central filling defect in the splenic vein that was compatible with acute splenic-vein thrombosis. CT of the chest, performed after the administration of intravenous contrast material, revealed low lung volumes, scattered ground-glass opacities, and no evidence of pulmonary embolism. Dr. McGrath: Oral contraception was stopped. On the third hospital day, the patient’s abdominal pain diminished, and she was discharged home. n engl j med 377;26 nejm.org December 28, 2017 2581 The New England Journal of Medicine Downloaded from nejm.org at The University Of Illinois on March 27, 2018. For personal use only. No other uses without permission. Copyright © 2017 Massachusetts Medical Society. All rights reserved. The new england journal of medicine Table 1. Laboratory Data. Reference 1 Wk before Reference On Range, Adults, This Admission, Range, Adults, Admission, Variable Other Hospital* Other Hospital This Hospital* This Hospital Hematocrit (%) 37–47 28.2 36–46 27.5 Hemoglobin (g/dl) 12–16 9.8 12–16 9.0 White-cell count (per mm3) 4500–11,000 5900 4500–11,000 7820 Differential count (%) Neutrophils 40–70 62 40–70 85 Lymphocytes 21–49 30 22–44 11.6 Monocytes 2–10 6.5 4–11 3.3 Eosinophils 0–7 0.2 0–8 0 Basophils 0–2 1.3 0–3 0.1 Platelet count (per mm3) 150,000– 77,000 150,000– 80,000 400,000 400,000 Red-cell count (per mm3) 4,200,000– 2,690,000 4,000,000– 2,720,000 5,400,000 5,200,000 Mean corpuscular volume (fl) 80–94 105 80–100 101 Mean corpuscular hemoglobin (pg) 27–31 36.3 26–34 33 Mean corpuscular hemoglobin concentration (g/dl) 32–36 34.6 31–37 33 Red-cell distribution width (%) 10.5–14.3 14.2 11.5–14.5 14.6 Reticulocyte count (%) 0.5–2.5 4.5 0.5–2.5 3.8 Prothrombin time (sec) 9.0–11.9 9.2 11–14 14.9 Prothrombin-time international normalized ratio 0.8–1.2 0.9 0.9–1.1 1.2 Activated partial-thromboplastin time (sec) 23–32 28.5 22–35 28.1 Fibrinogen (mg/dl) 175–425 417 150–400 327 D-dimer (ng/ml) <590 4400 <500 9377 Total bilirubin (mg/dl)† 0.2–1.0 0.8 0–1.0 0.4 Haptoglobin (mg/dl) 43–212 <15 16–199 <6 Lactate dehydrogenase (U/liter) 100–190 678 110–210 487 Alkaline phosphatase (U/liter) 31–116 151 45–115 165 Alanine aminotransferase (U/liter) 7–35 25 10–55 29 Aspartate aminotransferase (U/liter) 10–32 38 10–40 25 * Reference values are affected by many variables, including the patient population and the laboratory methods used. The ranges are for adults who are not pregnant and do not have medical conditions that could affect the results. They may therefore not be appropriate for all patients. † To convert the values for bilirubin to micromoles per liter, multiply by 17.1. Four days later, severe bifrontal headache and evaluated at the other hospital. Additional imag- loss of vision in the left visual field developed. ing studies were obtained. The patient was evaluated by her primary care Dr. Gonzalez: CT of the head and neck (Fig. 2) physician. On examination, she had decreased revealed a confluent area of hypodensity and sul- peripheral vision superiorly and inferiorly in the cal effacement involving the superior right pari- left visual field. Magnetic resonance imaging etal lobe that extended inferiorly into the right (MRI) of the head was scheduled, but the sever- occipital lobe and the right aspect of the sple- ity of her headaches increased, and she was nium of the corpus callosum (a finding sugges- 2582 n engl j med 377;26 nejm.org December 28, 2017 The New England Journal of Medicine Downloaded from nejm.org at The University Of Illinois on March 27, 2018. For personal use only. No other uses without permission. Copyright © 2017 Massachusetts Medical Society. All rights reserved. Case Records of the Massachusetts General Hospital tive of a recent infarct) and small, focal areas of sensation to light touch, and deep-tendon reflexes hyperdensity (findings consistent with hemor- of the arms and legs were normal. Finger–nose– rhagic conversion). Although a focal occlusive finger testing showed no dysmetria. Examina- thrombus was not identified, the distal branches tion of a peripheral-blood smear showed 0 to 2 of the right posterior cerebral veins were not visi- schistocytes per high-power field, teardrop and ble. The patient was transferred to the emergency pencil cells, occasional large platelets, and normal- department of this hospital. appearing white cells. Urinalysis showed 1+ ke- Dr. McGrath: On evaluation in the emergency tones, 2+ blood, 1+ protein, 1+ urobilinogen, a department, the patient reported persistent head- specific gravity greater than 1.040 (normal ache, vision changes in the left visual field, range, 1.001 to 1.035), and a pH of 5 (normal photophobia, phonophobia, and pain with extra- range, 5 to 9) by dipstick; microscopic exami- ocular movements. She had a history of chronic nation of the sediment revealed no red cells and back pain that was related to a vertebral disk 3 to 5 white cells per high-power field (normal herniation, for which she had undergone spinal- range, 0 to 2). Other laboratory test results are fusion surgery 4 years before admission to this shown in Table 1. The patient was admitted to hospital. During the 3 years before admission, the intensive care unit of this hospital, and addi- she had had two episodes of self-limited throm- tional imaging studies were obtained. bocytopenia that were thought to be associated Dr. Gonzalez: MRI of the head confirmed the with methotrexate treatment for an unknown infarcts and hemorrhagic conversion that had skin disorder. She had no history of bleeding or been seen on CT angiography and venography clotting disorders and had had no spontaneous (Fig. 2). A cortical vein was not visible over the miscarriages. She had a 2-year history of waxing- lesion, which suggested either cortical-vein throm- and-waning dull epigastric pain that was associ- bosis or secondary compression due to mass ated with nausea and occasional episodes of effect of the parenchymal lesion. On the second bilious emesis; the pain partially improved with hospital day, transfemoral cerebral angiography omeprazole. The patient’s medications included diclofenac, baclofen, controlled-release morphine sulfate, hydrocodone–acetaminophen, and omeprazole. She had taken oral contraception in the past for extended periods of time. She lived in coastal New England and worked in communications. She drank alcohol occasionally and smoked less than 1 pack of cigarettes per week; she had not smoked during the past few months. She did not use illicit drugs, over-the-counter medications, or herbal medications. There was no family his- tory of bleeding or clotting disorders, spontane- ous miscarriage, or hematologic cancer. On examination, the temperature was 38.3°C, the blood pressure 126/72 mm Hg, the pulse 54 beats per minute, the respiratory rate 20 breaths per minute, and the oxygen saturation 96% while the patient was breathing ambient air.
Load more

Recommended publications
  • Hemoglobin Wayne Trait with Incidental Polycythemia
    Available online at www.annclinlabsci.org 96 Annals of Clinical & Laboratory Science, vol. 47, no. 1, 2017 Hemoglobin Wayne Trait with Incidental Polycythemia Manju Ambelil, Nghia Nguyen, Amitava Dasgupta, Semyon Risin, and Amer Wahed Department of Pathology and Laboratory Medicine, University of Texas Health Science Center- McGovern Medical School, Houston, TX, USA Abstract. Hemoglobinopathies, caused by mutations in the globin genes, are one of the most common inherited disorders. Many of the hemoglobin variants can be identified by hemoglobin analysis using conventional electrophoresis and high performance liquid chromatography; however hemoglobin DNA analysis may be necessary in other cases for confirmation. Here, we report a case of a rare alpha chain he- moglobin variant, hemoglobin Wayne, in a 47-year-old man who presented with secondary polycythemia. Capillary zone electrophoresis and high performance liquid chromatography revealed a significant amount of a hemoglobin variant, which was further confirmed by hemoglobin DNA sequencing as hemoglobin Wayne. Since the patient was not homozygous for hemoglobin Wayne, which is associated with second- ary polycythemia, the laboratory diagnosis in this case was critical in ruling out hemoglobinopathy as the etiology of his polycythemia. Key words: Hemoglobinopathies; hemoglobin Wayne; alpha globin chain variant. Introduction mean corpuscular hemoglobin of 27.1 pg. The red cell distribution width, total and differential leukocyte Hemoglobinopathies are the most common and counts, and platelets were normal. An anemia study clinically significant single-gene-inherited disorders showed a serum iron level of 127 mcg/dL, a ferritin con- [1]. These are caused by mutations in the globin centration of 239 ng/mL, an iron saturation of 42%, a total iron binding capacity of 306 mcg/dL, an unsatu- genes, resulting in quantitative and qualitative de- rated iron binding capacity of 179mcg/dL, and a vita- fects in the globin chain synthesis [2].
    [Show full text]
  • A G E N D a Cibmtr Working Committee for Primary
    Not for publication or presentation A G E N D A CIBMTR WORKING COMMITTEE FOR PRIMARY IMMUNE DEFICIENCIES, INBORN ERRORS OF METABOLISM AND OTHER NON-MALIGNANT MARROW DISORDERS Honolulu, Hawaii Thursday, February 18, 2016, 12:15 – 2:15 pm Co-Chair: Paolo Anderlini, MD, MD Anderson Cancer Center, Houston, TX; Telephone: 713-745-4367; E-mail: [email protected] Co-Chair: Neena Kapoor, MD, Children’s Hospital of Los Angeles, Los Angeles, CA; Telephone: 323-361-2546; E-mail: [email protected] Co-Chair: Jaap Jan Boelens, MD, PhD, University Medical Center Utrecht, Utrecht, Netherlands; Telephone: +31 8875 54003; E-mail: [email protected] Co-Chair: Vikram Mathews, MD, DM, MBBS, Christian Medical College Hospital, Vellore, India; Telephone: +011 91 416 228 2891; E-mail: [email protected] Scientific Director: Mary Eapen, MBBS, MS, CIBMTR Statistical Center, Milwaukee, WI; Telephone: 414-805-0700; E-mail: [email protected] Statistical Ruta Brazauskas, PhD, CIBMTR Statistical Center, Milwaukee, WI; Directors: Telephone: 414-456-8687; E-mail: [email protected] Soyoung Kim, PhD, CIBMTR Statistical Center, Milwaukee Telephone: 414-955-8271; E-mail: [email protected] 1. Introduction a. Minutes and Overview Plan from February 2015 meeting (Attachment 1) 2. Accrual summary (Attachment 2) 3. Presentations, published or submitted papers a. AA12-01 Ayas M, Eapen M, Le-Rademacher J, Carreras J, Abdel-Azim H, Alter BP, Anderlini P, Battiwalla M, Bierings M, Buchbinder DK, Bonfim C, Camitta BM, Fasth AL, Gale RP, Lee MA, Lund TC, Myers KC, Olsson RF, Page KM, Prestidge TD, Radhi M, Shah AJ, Schultz KR, Wirk B, Wagner JE, Deeg HJ.
    [Show full text]
  • Hemoglobin Bart's and Alpha Thalassemia Fact Sheet
    Health Care Provider Hemoglobinopathy Fact Sheet Hemoglobin Bart’s & Alpha Thalassemia Hemoglobin Bart’s is a tetramer of gamma (fetal) globin chains seen during the newborn period. Its presence indicates that one or more of the four genes that produce alpha globin chains are dysfunctional, causing alpha thalassemia. The more alpha genes affected, the more significant the thalassemia and clinical symptoms. Alpha thalassemia occurs in individuals of all ethnic backgrounds and is one of the most common genetic diseases worldwide. However, the clinically significant forms (Hemoglobin H disease, Hemoglobin H Constant Spring, and Alpha Thalassemia Major) occur predominantly among Southeast Asians. Summarized below are the manifestations associated with the different levels of Hemoglobin Bart’s detected on the newborn screen, and recommendations for follow-up. The number of dysfunctional genes is estimated by the percentage of Bart’s seen on the newborn screen. Silent Carrier- Low Bart’s If only one alpha gene is affected, the other three genes can compensate nearly completely and only a low level of Bart’s is detected, unless hemoglobin Constant Spring is identified (see below). Levels of Bart’s below a certain percentage are not generally reported by the State Newborn Screening Program as these individuals are likely to be clinically and hematologically normal. However, a small number of babies reported as having possible alpha thalassemia trait will be silent carriers. Alpha Thalassemia or Hemoglobin Constant Spring Trait- Moderate Bart’s Alpha thalassemia trait produces a moderate level of Bart’s and typically results from the dysfunction of two alpha genes-- either due to gene deletions or a specific change in the alpha gene that produces elongated alpha globin and has a thalassemia-like effect: hemoglobin Constant Spring.
    [Show full text]
  • ICSH Guidelines for the Laboratory Diagnosis of Nonimmune Hereditary Red Cell Membrane Disorders M.-J.KING*,L.Garcßon†,J.D.HOYER‡,A.IOLASCON§,V.PICARD¶, G
    International Journal of Laboratory Hematology The Official journal of the International Society for Laboratory Hematology ORIGINAL ARTICLE INTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY ICSH guidelines for the laboratory diagnosis of nonimmune hereditary red cell membrane disorders M.-J.KING*,L.GARCßON†,J.D.HOYER‡,A.IOLASCON§,V.PICARD¶, G. STEWART**, P. BIANCHI††, S.-H. LEE‡‡,1,A.ZANELLA††, FOR THE INTERNATIONAL COUNCIL FOR STANDARDIZATION IN HAEMATOLOGY *Membrane Biochemistry, NHS SUMMARY Blood and Transplant, Bristol, UK Introduction: Hereditary spherocytosis (HS), hereditary elliptocytosis † Laboratoire d’Hematologie, (HE), and hereditary stomatocytosis (HSt) are inherited red cell dis- Centre de Biologie Humaine, CHU d’Amiens, Amiens, France orders caused by defects in various membrane proteins. The hetero- ‡Department of Laboratory geneous clinical presentation, biochemical and genetic Medicine and Pathology, Mayo abnormalities in HS and HE have been well documented. The need Clinic Rochester, Rochester, to raise the awareness of HSt, albeit its much lower prevalence MN, USA §Department of Molecular than HS, is due to the undesirable outcome of splenectomy in these Medicine & Medical patients. Biotechnologies, University Methods: The scope of this guideline is to identify the characteristic Federico II of Naples, Naples, clinical features, the red cell parameters (including red cell mor- Italy ¶Hematologie Biologique, phology) for these red cell disorders associated, respectively, with Bicetre^ et Faculte de Pharmacie, defective cytoskeleton (HS and HE) and abnormal cation perme- AP-HP Hopital,^ Universite Paris- ability in the lipid bilayer (HSt) of the red cell. The current Sud, Le Kremlin Bicetre,^ France **Division of Medicine, screening tests for HS are described, and their limitations are University College London, highlighted.
    [Show full text]
  • Autosplenectomy in a Patient with Paroxysmal Nocturnal Hemoglobinuria (PNH)
    Hindawi Case Reports in Hematology Volume 2019, Article ID 3146965, 5 pages https://doi.org/10.1155/2019/3146965 Case Report Autosplenectomy in a Patient with Paroxysmal Nocturnal Hemoglobinuria (PNH) Ethan Burns ,1 Kartik Anand ,1 Gonzalo Acosta ,1 Malcolm Irani,1 Betty Chung,2 Abhishek Maiti,3 Ibrahim Ibrahim,4 and Lawrence Rice 1 1Houston Methodist Hospital, Department of Medicine, 6550 Fannin St, Houston, TX 77030, USA 2Houston Methodist Hospital, Department of Pathology and Genomic Medicine, 6550 Fannin St, Houston, TX 77030, USA 3(e University of Texas MD Anderson Cancer Center, Division of Cancer Medicine, 1515 Holcombe Blvd, Houston, Texas 77030, USA 4University of Texas Southwestern, Department of Internal Medicine, Division of Hematology/Oncology, 5323 Harry Hines Blvd, Dallas, TX 75390, USA Correspondence should be addressed to Ethan Burns; [email protected] Received 2 December 2018; Revised 29 December 2018; Accepted 27 January 2019; Published 12 February 2019 Academic Editor: Ha˚kon Reikvam Copyright © 2019 Ethan Burns et al. *is is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Autosplenectomy (AS) is a known complication of diseases such as sickle cell anemia, celiac disease, and inflammatory bowel disease. We report the first known case of AS due to paroxysmal nocturnal hemoglobinuria (PNH). A 24-year-old Caucasian male had evidence of hemolytic anemia at the age of 14 and was diagnosed with PNH at the age of 16. He had recurrent episodes of sepsis due to dialysis line infections from poor hygiene, and blood cultures had been positive for multiple organisms including Staphylococcus aureus, Enterococcus faecalis, and Streptococcus pneumoniae.
    [Show full text]
  • Patient History for Hemoglobinopathy
    500 Chipeta Way Salt Lake City, UT 84108-1221 phone: 801-583-2787 | toll free: 800-242-2787 fax: 801-584-5249 | aruplab.com THIS IS NOT A TEST REQUEST FORM. Please complete and submit with the test request form or electronic packing list. PATIENT HISTORY FOR HEMOGLOBINOPATHY/THALASSEMIA TESTING Patient Name: Date of Birth: Sex: Female Male ☐ ☐ Ordering Provider: Provider’s Phone: Practice Specialty: Provider’s Fax: Genetic Counselor: Counselor Phone: Patient’s Ethnicity/Ancestry (check all that apply) African American/Black Asian Hispanic White Other: ☐ ☐ ☐ ☐ ☐ List country of origin (if known): Does the patient have symptoms? .................................................................. No Yes (check all that apply and describe) ☐ ☐ Anemia: Has iron deficiency been excluded? .......................................................................... No Yes Unknown ☐ ☐ ☐ ☐ Splenomegaly Other symptoms: ☐ ☐ Has the patient had a recent transfusion? ................... No Yes; date of transfusion: Unknown ☐ ☐ ☐ Laboratory Findings: (Indicate which testing was performed and provide results, as requested.) ☐ Hemoglobin evaluation by electrophoresis or HPLC; date performed: Hb A%: Hb C%: Hb F%: Other: Hb A2%: Hb E%: Hb S%: CBC: date performed: HGB: HCT: MCV: Reticulocyte count: ( %) ☐ Has the patient undergone previous DNA testing? ...................................................................... ☐ No Yes Unknown ☐ ☐ If yes, check the completed test(s) and provide the result or attach a copy of the laboratory report. Alpha globin deletion analysis; result: ☐ Beta globin sequencing; result: ☐ Other: ☐ Is there any relevant family history of hemoglobinopathy/thalassemia? ..................................... No Yes Unknown ☐ ☐ ☐ If yes, specify the relative's relationship to the patient: ; The relative is: a healthy carrier / affected ☐ ☐ List the gene and variant(s) identified or attach a copy of the relative's laboratory result: Check the test you intend to order.
    [Show full text]
  • Hemoglobinopathies Genetic Testing
    Lab Management Guidelines V2.0.2020 Hemoglobinopathies Genetic Testing MOL.TS.308.AZ v2.0.2020 Introduction Testing for hemoglobinopathies is addressed by this guideline. Procedures addressed The inclusion of any procedure code in this table does not imply that the code is under management or requires prior authorization. Refer to the specific Health Plan's procedure code list for management requirements. Procedures addressed by this Procedure codes guideline HBA1/HBA2 Targeted Mutation Analysis 81257 HBA1/HBA2 Known Familial Mutation 81258 Analysis HBA1/HBA2 Sequencing 81259 HBA1/HBA2 Deletion/Duplication Analysis 81269 HBB Targeted Mutation Analysis 81361 HBB Known Familial Mutation Analysis 81362 HBB Sequencing 81364 HBB Deletion/Duplication Analysis 81363 What are Hemoglobinopathies Definition Hemoglobinopathies are a group of genetic disorders involving abnormal production or structure of the hemoglobin protein.1 Hemoglobin is found in red blood cells and is responsible for delivering oxygen throughout the body. It is composed of four polypeptide sub-units (globin chains) that normally associate with each other in one of the following forms: Hemoglobin A (HbA), composed of two alpha and two beta chains, makes up about 95-98% of adult hemoglobin. Hemoglobin A2 (HbA2), composed of two alpha and two delta chains, makes up about 2-3% of adult hemoglobin. © 2020 eviCore healthcare. All Rights Reserved. 1 of 13 400 Buckwalter Place Boulevard, Bluffton, SC 29910 (800) 918-8924 www.eviCore.com Lab Management Guidelines V2.0.2020 Hemoglobin F (HbF, fetal hemoglobin), composed of two alpha and two gamma chains, makes up about 1-2% of adult hemoglobin. While there is only one beta globin gene (HBB), there are 2 different genes that code for alpha globin: HBA1 and HBA2.
    [Show full text]
  • Significant Methemoglobinemia with Bovine Hemoglobin Infusion in A
    LETTERS TO THE EDITOR 1Grado Department of Industrial and Systems sial due to multiple side effects including abdominal pain, Engineering jaundice, hematuria, rash, and an increase in methemo- Virginia Polytechnic Institute and State University globin (MetHb). The increase of MetHb is proportional to Blacksburg, VA the total volume of HP transfused.1 HP has been used to 2American Red Cross treat severe anemia in multiple conditions with mixed Scientific Support Office results, including a few cases of successful treatment of 2,3 Gaithersburg, MD severe autoimmune hemolytic anemia (AIHA). We report a case of severe AIHA treated with HP, resulting in a marked increase of MetHb and a poor clinical outcome. A 24-year-old African American male with a history doi:10.1111/trf.13453 of refractory Evan’s syndrome presented at an outside VC 2015 AABB institution with active hemolysis (Hb 8.9 g/dL), hematem- esis, hematuria, fatigue, weakness, and thoracoabdominal REFERENCES pain after receiving 2 weeks of oral amoxicillin for a uri- nary tract infection. He received a splenectomy 3 years 1. Goodell AJ, Bloch EM, Simon MS, et al. Babesia earlier for refractory immune thrombocytopenia. He had screening: the importance of reporting and calibration no personal or family history of a hemoglobinopathy or in cost-effectiveness models. Transfusion 2016;56:000-00. glucose-6-phosphate dehydrogenase deficiency. He was 2. Bish EK, Moritz ED, El-Amine H, et al. Cost-effectiveness of started on methylprednisone (1000 mg daily) and given Babesia microti antibody and nucleic acid blood donation one dose of rituximab (750 mg) and cyclophosphamide screening using results from prospective investigational (1500 mg).
    [Show full text]
  • ACT SHEET for POSITIVE NEWBORN SCREENING RESULT (FA + Barts, FA + Other* + Barts) Alpha Thalassemia
    ACT SHEET FOR POSITIVE NEWBORN SCREENING RESULT (FA + Barts, FA + other* + Barts) Alpha Thalassemia Disease Category: Hemoglobinopathy Meaning of the Screening Result: Hemoglobin Bart’s on a newborn screen is highly suggestive of Alpha thalassemia – any of 4 types. Alpha thalassemia 2 - silent carrier is a result of a single gene deletion. Alpha thalassemia trait results from loss of two genes. Hemoglobin H disease is a thalassemia resulting from the loss of 3 genes. Hydrops fetalis results from the 4-gene deletion which would be unlikely to be detected on a newborn screen since newborns do not survive more than a few hours. Other* = S,C,E,D, or V YOU SHOULD TAKE THE FOLLOWING ACTIONS: • Contact the family to inform them of the screening result and offer education and counseling. • Order confirmatory testing (hemoglobin electrophoresis). • Encourage parents to seek testing for thalassemia and hemoglobin variants followed by genetic counseling. • Following initial confirmatory testing, referral to pediatric hematologist may be indicated for definitive diagnosis. • Report findings to Nebraska Newborn Screening Program. Pediatric specialists in hemoglobinopathies are available at Children’s Hospital (402) 9553950 and Nebraska Medical Center (402) 559-7257. Condition Description and Clinical Expectations: The alpha thalassemias result from the loss of alpha globin genes. There are normally four genes for alpha globin production so that the loss of one to four genes is possible. A single gene deletion causes alpha thalassemia 2 (silent carrier) with no clinically detectable problems but may cause small amounts of hemoglobin Bart’s to be present in newborn blood samples. Alpha thalassemia trait (Alpha thalassemia 1) a two gene deletion causes a mild microcytic anemia, which may resemble iron deficiency anemia.
    [Show full text]
  • Beta Hemoglobinopathies Genetic Testing
    BETA HEMOGLOBINOPATHIES GENETIC TESTING • The stiff, sickle-shaped cells can get stuck inside small What are beta blood vessels, which can prevent blood from flowing into or out of organs and tissues. This can lead to hemoglobinopathies? health problems ranging from episodes of pain to Beta hemoglobinopathies are inherited recurring infections to serious organ damage. disorders caused by the abnormal production Complications of sickle cell disease usually develop in of hemoglobin in the blood. Hemoglobin is early childhood and may include the following3,4: a protein found in red blood cells that carries • Anemia oxygen from the lungs to all parts of your body. • Painful swelling of the hands and feet If the molecular structure of hemoglobin is • Yellowing of the skin (jaundice) abnormal, or if there is not enough hemoglobin • Recurring infections in your blood, your organs and tissues may • Blockage of blood vessels in the spleen causing not receive enough oxygen. This can result in enlargement and restriction of blood flow (splenic symptoms of anemia, which include tiredness sequestration) (fatigue), weakness, shortness of breath, and • Recurrent pain crises (severe pain in the arms, legs, pale skin. Anemia may lead to more severe head, chest, abdomen, or back) complications, such as organ damage, that may • High blood pressure in the lungs (pulmonary be life threatening. hypertension) causing shortness of breath, chest pain, and a rapid heart rate • Blockage of blood vessels in the brain, which can lead Beta hemoglobinopathies are most common in to stroke people of African, Asian, Hispanic, Italian, Middle Blockage of blood vessels in the lungs (acute chest 1,2 • Eastern, West Indian, and Mediterranean descent.
    [Show full text]
  • The Interplay Between Drivers of Erythropoiesis and Iron Homeostasis in Rare Hereditary Anemias: Tipping the Balance
    International Journal of Molecular Sciences Review The Interplay between Drivers of Erythropoiesis and Iron Homeostasis in Rare Hereditary Anemias: Tipping the Balance Simon Grootendorst 1,† , Jonathan de Wilde 1,†, Birgit van Dooijeweert 1 , Annelies van Vuren 2, Wouter van Solinge 1, Roger Schutgens 2, Richard van Wijk 1 and Marije Bartels 2,* 1 Department of Clinical Chemistry and Haematology, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands; [email protected] (S.G.); [email protected] (J.d.W.); [email protected] (B.v.D.); [email protected] (W.v.S.); [email protected] (R.v.W.) 2 Van Creveldkliniek, University Medical Center Utrecht, 3584 CX Utrecht, The Netherlands; [email protected] (A.v.V.); [email protected] (R.S.) * Correspondence: [email protected] † These authors contributed equally. Abstract: Rare hereditary anemias (RHA) represent a group of disorders characterized by either impaired production of erythrocytes or decreased survival (i.e., hemolysis). In RHA, the regulation of iron metabolism and erythropoiesis is often disturbed, leading to iron overload or worsening of chronic anemia due to unavailability of iron for erythropoiesis. Whereas iron overload generally is a well-recognized complication in patients requiring regular blood transfusions, it is also a significant problem in a large proportion of patients with RHA that are not transfusion dependent. This indicates that RHA share disease-specific defects in erythroid development that are linked to intrinsic defects Citation: Grootendorst, S.; de Wilde, J.; van Dooijeweert, B.; van Vuren, A.; in iron metabolism.
    [Show full text]
  • Beta Hemoglobinopathies
    Beta hemoglobinopathies What are beta hemoglobinopathies? Beta hemoglobinopathies are a group of inherited disorders of red blood cells characterized by mild to severe anemia. Individuals with beta hemoglobinopathies have defects in one of the beta-globin chains of hemoglobin,1-4 the oxygen- carrying molecule in the blood. Symptoms of beta-hemoglobinopathies are due to structurally abnormal hemoglobins, or to reduced or absent production of hemoglobins.1,2 What are the symptoms of beta hemoglobinopathies and what treatment is available? Beta hemoglobinopathies due to structural changes in hemoglobin include sickle cell disease. Individuals with sickle cell disease usually become symptomatic in infancy or childhood and symptoms may include:1,4 • Hemolytic anemia • Jaundice (yellowing of the skin) • Susceptibility to recurrent infections • Acute splenic sequestration crisis (blockage of blood vessels in the spleen causing enlargement and restriction of blood flow from the spleen) • Recurrent pain crises (severe pain in the extremities, head, chest, abdomen, or back) • Pulmonary hypertension (high blood pressure in blood vessels supplying the lungs) • Stroke • Acute thoracic syndrome (severe, sudden respiratory condition) Beta hemoglobinopathies due to decreased production of hemoglobin are also known as thalassemias. The severe form of beta thalassemia is known as thalassemia major and the less severe form as thalassemia intermedia. Individuals with thalassemia major typically become symptomatic before age two and symptoms may include:2,4
    [Show full text]