DOCSLIB.ORG

Fact Sheet: Beta Thalassemia Trait

Total Page：16

File Type：pdf, Size：1020Kb

Download full-text PDF Read full-text
Fact Sheet: Beta Thalassemia Trait a person of any nationality to have beta thalassemia trait. trait. thalassemia beta have to nationality any of person a Asia, the Middle East, or the Mediterranean region. It is possible for for possible is It region. Mediterranean the or East, Middle the Asia, Africa, Hematology Hematology Beta thalassemia trait is common in people whose ancestors came from from came ancestors whose people in common is trait thalassemia Beta Who can have beta thalassemia trait? trait? thalassemia beta have can Who disease or sickle cell disease later in life. life. in later disease cell sickle or disease Trait Trait People with beta thalassemia trait do not develop beta thalassemia thalassemia beta develop not do trait thalassemia beta with People People with beta thalassemia do not make enough hemoglobin. hemoglobin. enough make not do thalassemia beta with People Thalassemia Thalassemia β ) hemoglobin in their red blood cells. cells. blood red their in hemoglobin ) ( thalassemia beta abnormal People with beta thalassemia trait have both normal hemoglobin hemoglobin normal both have trait thalassemia beta with People A and and A Beta Beta A. A. hemoglobin type, (1) one lungs to all parts of your body. People with normal hemoglobin have only only have hemoglobin normal with People body. your of parts all to lungs Your red blood cells contain hemoglobin, which carries oxygen from the the from oxygen carries which hemoglobin, contain cells blood red Your FACT SHEET SHEET FACT Beta thalassemia is a condition that affects the red blood cells. cells. blood red the affects that condition a is thalassemia Beta What is beta thalassemia trait? trait? thalassemia beta is What BMC–05/19 (BK600 BMC–05/19 What if both parents have beta 0) thalassemia trait? If both parents have beta thalassemia trait, there is a 25 percent (1 in 4) chance with each pregnancy of Beta Beta having a child with beta thalassemia . Thalassemia Thalassemia disease Trait Trait The amount of hemoglobin produced determines (Aβ) (Aβ) whether a person has: Beta thalassemia intermedia or Beta thalassemia major disease. Beta thalassemia major is also called Cooley’s anemia. 262 Danny Thomas Place Beta thalassemia disease is a lifelong illness that can Mail Stop 800 cause serious health problems. People with this Beta Beta Beta No Trait Memphis, TN 381 8 705-36 disease need medical treatment. Thalassemia Thalassemia Thalassemia (AA) Disease Trait Trait www or.stjude. g (ββ) (Aβ) (Aβ) Why should I know if I have beta thalassemia trait? You can pass on beta thalassemia trait to your children, like Beta Thalassemia No Trait you would hair or eye color. Trait (AA) (Aβ) If one (1) parent has beta thalassemia trait and the other parent has normal hemoglobin A, there is a 50 percent (1 in 2) chance with each pregnancy of having a child with beta thalassemia trait. Normally, beta thalassemia trait does not cause any health problems. Beta Beta No No Thalassemia Thalassemia Trait Trait Beta thalassemia trait is also known as beta thalassemia minor. Trait Trait (AA) (AA) (Aβ) (Aβ) What if one (1) parent has beta thalassemia trait and the other parent has sickle cell trait? If one (1) parent has beta thalassemia trait and the other parent has sickle cell trait, there is a 25 percent (1 in 4) chance with each pregnancy of having a child with sickle cell disease. Depending on the amount of hemoglobin produced, this type of sickle cell disease is called: Sickle beta plus thalassemia or Beta Thalassemia Sickle Cell Trait Trait Sickle beta zero thalassemia disease. (Aβ) (AS) S β hemoglobin A person with sickle cell disease has red blood cells S S β β S β β S β that can sickle or become banana shaped. Under S certain conditions, these cells can keep blood from circulating freely. Sickle cell disease is a lifelong illness that can cause serious health problems. People with this disease need medical treatment. Beta Sickle Sickle Beta No This document is not intended to replace counseling by a trained health care professional or genetic counselor. Questions Thalassemia Cell Thalassemia Trait about personal health concerns or treatment should be discussed with your doctor. For more information about sickle cell disease, visit our Web site at www.stjude.org/sicklecell. Trait Trait Disease (AA) (Aβ) (AS) (Sβ) Funds for reproduction of this document were provided by St. Jude Children’s Research Hospital, ALSAC, and a grant from the Plough Foundation. Copyright © 2009 St. Jude Children’s Research Hospital .
Load more

Recommended publications
  • Phenotypic and Molecular Genetic Analysis of Pyruvate Kinase Deficiency in a Tunisian Family
    The Egyptian Journal of Medical Human Genetics (2016) 17, 265–270 HOSTED BY Ain Shams University The Egyptian Journal of Medical Human Genetics www.ejmhg.eg.net www.sciencedirect.com ORIGINAL ARTICLE Phenotypic and molecular genetic analysis of Pyruvate Kinase deficiency in a Tunisian family Jaouani Mouna a,1,*, Hamdi Nadia a,1, Chaouch Leila a, Kalai Miniar a, Mellouli Fethi b, Darragi Imen a, Boudriga Imen a, Chaouachi Dorra a, Bejaoui Mohamed b, Abbes Salem a a Laboratory of Molecular and Cellular Hematology, Pasteur Institute, Tunis, Tunisia b Service d’Immuno-He´matologie Pe´diatrique, Centre National de Greffe de Moelle Osseuse, Tunis, Tunisia Received 9 July 2015; accepted 6 September 2015 Available online 26 September 2015 KEYWORDS Abstract Pyruvate Kinase (PK) deficiency is the most frequent red cell enzymatic defect responsi- Pyruvate Kinase deficiency; ble for hereditary non-spherocytic hemolytic anemia. The disease has been studied in several ethnic Phenotypic and molecular groups. However, it is yet an unknown pathology in Tunisia. We report here, the phenotypic and investigation; molecular investigation of PK deficiency in a Tunisian family. Hemolytic anemia; This study was carried out on two Tunisian brothers and members of their family. Hematolog- Hydrops fetalis; ical, biochemical analysis and erythrocyte PK activity were performed. The molecular characteriza- PKLR mutation tion was carried out by gene sequencing technique. The first patient died few hours after birth by hydrops fetalis, the second one presented with neonatal jaundice and severe anemia necessitating urgent blood transfusion. This severe clinical pic- ture is the result of a homozygous mutation of PKLR gene at exon 8 (c.1079G>A; p.Cys360Tyr).
    [Show full text]
  • Non-Commercial Use Only
    only use Non-commercial 14th International Conference on Thalassaemia and Other Haemoglobinopathies 16th TIF Conference for Patients and Parents 17-19 November 2017 • Grand Hotel Palace, Thessaloniki, Greece only use For thalassemia patients with chronic transfusional iron overload... Make a lasting impression with EXJADENon-commercial film-coated tablets The efficacy of deferasirox in a convenient once-daily film-coated tablet Please see your local Novartis representative for Full Product Information Reference: EXJADE® film-coated tablets [EU Summary of Product Characteristics]. Novartis; August 2017. Important note: Before prescribing, consult full prescribing information. iron after having achieved a satisfactory body iron level and therefore retreatment cannot be recommended. ♦ Maximum daily dose is 14 mg/kg body weight. ♦ In pediatric patients the Presentation: Dispersible tablets containing 125 mg, 250 mg or 500 mg of deferasirox. dosing should not exceed 7 mg/kg; closer monitoring of LIC and serum ferritin is essential Film-coated tablets containing 90 mg, 180 mg or 360 mg of deferasirox. to avoid overchelation; in addition to monthly serum ferritin assessments, LIC should be Indications: For the treatment of chronic iron overload due to frequent blood transfusions monitored every 3 months when serum ferritin is ≤800 micrograms/l. (≥7 ml/kg/month of packed red blood cells) in patients with beta-thalassemia major aged Dosage: Special population ♦ In moderate hepatic impairment (Child-Pugh B) dose should 6 years and older. ♦ Also indicated for the treatment of chronic iron overload due to blood not exceed 50% of the normal dose. Should not be used in severe hepatic impairment transfusions when deferoxamine therapy is contraindicated or inadequate in the following (Child-Pugh C).
    [Show full text]
  • 224 Subpart H—Hematology Kits and Packages
    § 864.7040 21 CFR Ch. I (4–1–02 Edition) Subpart H—Hematology Kits and the treatment of venous thrombosis or Packages pulmonary embolism by measuring the coagulation time of whole blood. § 864.7040 Adenosine triphosphate re- (b) Classification. Class II (perform- lease assay. ance standards). (a) Identification. An adenosine [45 FR 60611, Sept. 12, 1980] triphosphate release assay is a device that measures the release of adenosine § 864.7250 Erythropoietin assay. triphosphate (ATP) from platelets fol- (a) Identification. A erythropoietin lowing aggregation. This measurement assay is a device that measures the is made on platelet-rich plasma using a concentration of erythropoietin (an en- photometer and a luminescent firefly zyme that regulates the production of extract. Simultaneous measurements red blood cells) in serum or urine. This of platelet aggregation and ATP re- assay provides diagnostic information lease are used to evaluate platelet for the evaluation of erythrocytosis function disorders. (increased total red cell mass) and ane- (b) Classification. Class I (general mia. controls). (b) Classification. Class II. The special [45 FR 60609, Sept. 12, 1980] control for this device is FDA’s ‘‘Docu- ment for Special Controls for Erythro- § 864.7060 Antithrombin III assay. poietin Assay Premarket Notification (a) Identification. An antithrombin III (510(k)s).’’ assay is a device that is used to deter- [45 FR 60612, Sept. 12, 1980, as amended at 52 mine the plasma level of antithrombin FR 17733, May 11, 1987; 65 FR 17144, Mar. 31, III (a substance which acts with the 2000] anticoagulant heparin to prevent co- agulation). This determination is used § 864.7275 Euglobulin lysis time tests.
    [Show full text]
  • Hb S/Beta-Thalassemia
    rev bras hematol hemoter. 2 0 1 5;3 7(3):150–152 Revista Brasileira de Hematologia e Hemoterapia Brazilian Journal of Hematology and Hemotherapy www.rbhh.org Scientific Comment ଝ The compound state: Hb S/beta-thalassemia ∗ Maria Stella Figueiredo Universidade Federal de São Paulo (UNIFESP), São Paulo, SP, Brazil Sickle cell disease (SCD) results from a single amino acid small increase in Hb concentration and in packed cell volume. substitution in the gene encoding the ␤-globin subunit However, these effects are not accompanied by any reduction ␤ ( 6Glu > Val) that produces the abnormal hemoglobin (Hb) in vaso-occlusive events, probably due to the great number of named Hb S. SCD has different genotypes with substantial Hb S-containing red blood cells resulting in increased blood 1,2 4,5 variations in presentation and clinical course (Table 1). The viscosity. combination of the sickle cell mutation and beta-thalassemia A confusing diagnostic problem is the differentiation 0 ␤ (␤-Thal) mutation gives rise to a compound heterozygous con- of Hb S/ -Thal from sickle cell anemia associated with ␣ dition known as Hb S/␤ thalassemia (Hb S/␤-Thal), which was -thalassemia. Table 2 shows that hematologic and elec- 3 first described in 1944 by Silvestroni and Bianco. trophoretic studies are unable to distinguish between the two The polymerization of deoxygenated Hb S (sickling) is the conditions and so family studies and DNA analysis are needed 5 primary event in the molecular pathogenesis of SCD. How- to confirm the diagnosis. + ␤ ever, this event is highly dependent on the intracellular Hb In Hb S/ -Thal, variable amounts of Hb A dilute Hb S and composition; in other words, it is dependent on the concen- consequently inhibit polymerization-induced cellular dam- tration of Hb S, and type and concentration of the other types age.
    [Show full text]
  • Non-Transfusion-Dependent Thalassemias
    REVIEW ARTICLES Non-transfusion-dependent thalassemias Khaled M. Musallam, 1 Stefano Rivella, 2 Elliott Vichinsky, 3 and Eliezer A. Rachmilewitz, 4 1Department of Medicine and Medical Specialties, IRCCS Ca’ Granda Foundation Maggiore Policlinico Hospital, University of Milan, Milan, Italy; 2Department of Pediatrics, Division of Hematology/Oncology, Weill Medical College of Cornell University, New York, NY, USA; 3Department of Hematology and Oncology, Children’s Hospital and Research Center Oakland, Oakland, CA, USA; and 4Department of Hematology, Wolfson Medical Center, Holon, Israel ABSTRACT Non-transfusion-dependent thalassemias include a variety of phenotypes that, unlike patients with beta ( β)-tha - lassemia major, do not require regular transfusion therapy for survival. The most commonly investigated forms are β-thalassemia intermedia, hemoglobin E/ β-thalassemia, and α-thalassemia intermedia (hemoglobin H disease). However, transfusion-independence in such patients is not without side effects. Ineffective erythropoiesis and peripheral hemolysis, the hallmarks of disease process, lead to a variety of subsequent pathophysiologies including iron overload and hypercoagulability that ultimately lead to a number of serious clinical morbidities. Thus, prompt and accurate diagnosis of non-transfusion-dependent thalassemia is essential to ensure early intervention. Although several management options are currently available, the need to develop more novel therapeutics is jus - tified by recent advances in our understanding of the mechanisms of disease. Such efforts require wide interna - tional collaboration, especially since non-transfusion-dependent thalassemias are no longer bound to low- and middle-income countries but have spread to large multiethnic cities in Europe and the Americas due to continued migration. Introduction survival, although they may require occasional or even fre - quent transfusions in certain clinical settings and usually for Inherited hemoglobin disorders can be divided into two defined periods of time (Figure 1).
    [Show full text]
  • The Variable Manifestations of Disease in Pyruvate Kinase Deficiency and Their Management
    REVIEW ARTICLE The variable manifestations of disease in pyruvate kinase deficiency and their Ferrata Storti Foundation management Hanny Al-Samkari,1 Eduard J. van Beers,2 Kevin H.M. Kuo,3 Wilma Barcellini,4 Paola Bianchi,4 Andreas Glenthøj,5 María del Mar Mañú Pereira,6 Richard van Wijk,7 Bertil Glader8 and Rachael F. Grace9 1Division of Hematology, Massachusetts General Hospital, Harvard Medical School, Boston, MA, USA; 2Van Creveldkliniek, University Medical Centre Utrecht, University of Utrecht, Utrecht, the Netherlands; 3Division of Hematology, University of Toronto, University Health Haematologica 2020 Network, Toronto, Ontario, Canada; 4UOS Ematologia, Fisiopatologia delle Anemie, Volume 105(9):2229-2239 Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy; 5Department of Hematology, Herlev and Gentofte Hospital, Herlev, Denmark; 6Translational Research in Rare Anaemia Disorders, Vall d'Hebron Institut de Recerca (VHIR), Barcelona, Spain; 7Department of Clinical Chemistry & Hematology, University Medical Center Utrecht, Utrecht University, Utrecht, the Netherlands; 8Lucile Packard Children’s Hospital, Stanford University School of Medicine, Palo Alto, CA, USA and 9Dana/Farber Boston Children's Cancer and Blood Disorders Center, Harvard Medical School, Boston, MA, USA. ABSTRACT yruvate kinase deficiency (PKD) is the most common cause of chron- ic hereditary non-spherocytic hemolytic anemia and results in a Pbroad spectrum of disease. The diagnosis of PKD requires a high index of suspicion and judicious use of laboratory tests that may not always be informative, including pyruvate kinase enzyme assay and genetic analysis of the PKLR gene. A significant minority of patients with PKD have occult mutations in non-coding regions of PKLR which are missed on standard genetic tests.
    [Show full text]
  • Hereditary Spherocytosis: Clinical Features
    Title Overview: Hereditary Hematological Disorders of red cell shape. Disorders Red cell Enzyme disorders Disorders of Hemoglobin Inherited bleeding disorders- platelet disorders, coagulation factor Anthea Greenway MBBS FRACP FRCPA Visiting Associate deficiencies Division of Pediatric Hematology-Oncology Duke University Health Service Inherited Thrombophilia Hereditary Disorders of red cell Disorders of red cell shape (cytoskeleton): cytoskeleton: • Mutations of 5 proteins connect cytoskeleton of red cell to red cell membrane • Hereditary Spherocytosis- sphere – Spectrin (composed of alpha, beta heterodimers) –Ankyrin • Hereditary Elliptocytosis-ellipse, elongated forms – Pallidin (band 4.2) – Band 4.1 (protein 4.1) • Hereditary Pyropoikilocytosis-bizarre red cell forms – Band 3 protein (the anion exchanger, AE1) – RhAG (the Rh-associated glycoprotein) Normal red blood cell- discoid, with membrane flexibility Hereditary Spherocytosis: Clinical features: • Most common hereditary hemolytic disorder (red cell • Neonatal jaundice- severe (phototherapy), +/- anaemia membrane) • Hemolytic anemia- moderate in 60-75% cases • Mutations of one of 5 genes (chromosome 8) for • Severe hemolytic anaemia in 5% (AR, parents ASx) cytoskeletal proteins, overall effect is spectrin • fatigue, jaundice, dark urine deficiency, severity dependant on spectrin deficiency • SplenomegalSplenomegaly • 200-300:million births, most common in Northern • Chronic complications- growth impairment, gallstones European countries • Often follows clinical course of affected
    [Show full text]
  • Alpha Thalassemia Trait
    Alpha Thalassemia Trait Alpha Thalassemia Trait Produced by St. Jude Children’s Research Hospital, Departments of Hematology, Patient Education, 1 and Biomedical Communications. Funds were provided by St. Jude Children’s Research Hospital, ALSAC, and a grant from the Plough Foundation. This document is not intended to replace counseling by a trained health care professional or genetic counselor. Our aim is to promote active participation in your care and treatment by providing information and education. Questions about individual health concerns or specific treatment options should be discussed with your doctor. For general information on sickle cell disease and other blood disorders, please visit our Web site at www.stjude.org/sicklecell. Copyright © 2009 St. Jude Children’s Research Hospital Alpha thalassemia trait All red blood cells contain hemoglobin (HEE muh glow bin), which carries oxygen from your lungs to all parts of your body. Alpha thalassemia (thal uh SEE mee uh) trait is a condition that affects the amount of hemo- globin in the red blood cells. • Adult hemoglobin (hemoglobin A) is made of alpha and beta globins. • Normally, people have 4 genes for alpha globin with 2 genes on each chromosome (aa/aa). People with alpha thalassemia trait only have 2 genes for alpha globin, so their bodies make slightly less hemoglobin than normal. This trait was passed on from their parents, like hair color or eye color. A trait is different from a disease 2 Alpha thalassemia trait is not a disease. Normally, a trait will not make you sick. Parents who have alpha thalassemia trait can pass it on to their children.
    [Show full text]
  • Methemoglobinemia and Ascorbate Deficiency in Hemoglobin E Β Thalassemia: Metabolic and Clinical Implications
    From www.bloodjournal.org by guest on April 2, 2015. For personal use only. Plenary paper Methemoglobinemia and ascorbate deficiency in hemoglobin E ␤ thalassemia: metabolic and clinical implications Angela Allen,1,2 Christopher Fisher,1 Anuja Premawardhena,3 Dayananda Bandara,4 Ashok Perera,4 Stephen Allen,2 Timothy St Pierre,5 Nancy Olivieri,6 and David Weatherall1 1MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, John Radcliffe Hospital, Oxford, United Kingdom; 2College of Medicine, Swansea University, Swansea, United Kingdom; 3University of Kelaniya, Colombo, Sri Lanka; 4National Thalassaemia Centre, District Hospital, Kurunegala, Sri Lanka; 5School of Physics, University of Western Australia, Crawley, Australia; and 6Hemoglobinopathy Research, University Health Network, Toronto, ON During investigations of the phenotypic man hypoxia induction factor pathway is There was, in addition, a highly signifi- diversity of hemoglobin (Hb) E ␤ thalasse- not totally dependent on ascorbate lev- cant correlation between methemoglobin mia, a patient was encountered with per- els. A follow-up study of 45 patients with levels, splenectomy, and factors that sistently high levels of methemoglobin HbE ␤ thalassemia showed that methemo- modify the degree of globin-chain imbal- associated with a left-shift in the oxygen globin levels were significantly increased ance. Because methemoglobin levels are dissociation curve, profound ascorbate and that there was also a significant re- modified by several mechanisms and may deficiency, and clinical features of scurvy; duction in plasma ascorbate levels. Hap- play a role in both adaptation to anemia these abnormalities were corrected by toglobin levels were significantly re- and vascular damage, there is a strong treatment with vitamin C.
    [Show full text]
  • Sickle Cell: It's Your Choice
    Sickle Cell: It’s Your Choice What Does “Sickle Cell” Mean? Sickle is a type of hemoglobin. Hemoglobin is the substance that carries oxygen in the blood and gives blood its red color. A person’s hemoglobin type is not the same thing as blood type. The type of hemoglobin we have is determined by genes that we inherit from our parents. The majority of individuals have only the “normal” type of hemoglobin (A). However, there are a variety of other hemoglobin types. Sickle hemoglobin (S) is one of these types. There Are Two Forms of Sickle Cell. Sickle cell occurs in two forms. Sickle cell trait is not a disease; Sickle cell anemia (or sickle cell disease) is a disease. Sickle Cell Trait (or Sickle Trait) Sickle cell trait is found primarily in African Americans, people from areas around the Mediterranean Sea, and from islands in the Caribbean. Sickle cell trait occurs when a person inherits one sickle cell gene from one parent and one normal hemoglobin gene from the other parent. A person with sickle cell trait is healthy and usually is not aware that he or she has the sickle cell gene. A person who has sickle trait can pass it on to their children. If one parent has sickle cell trait and the other parent has the normal type of hemoglobin, there is a 50% (1 in 2) chance with EACH pregnancy that the baby will be born with sickle cell trait. When ONE parent has sickle cell trait, the child may inherit: • 50% chance for two normal hemoglobin genes (normal hemoglobin- AA), OR • 50% chance for one normal hemoglobin gene and one sickle cell gene (sickle cell trait- AS).
    [Show full text]
  • Iron Deficiency and the Anemia of Chronic Disease
    Thomas G. DeLoughery, MD MACP FAWM Professor of Medicine, Pathology, and Pediatrics Oregon Health Sciences University Portland, Oregon [email protected] IRON DEFICIENCY AND THE ANEMIA OF CHRONIC DISEASE SIGNIFICANCE Lack of iron and the anemia of chronic disease are the most common causes of anemia in the world. The majority of pre-menopausal women will have some element of iron deficiency. The first clue to many GI cancers and other diseases is iron loss. Finally, iron deficiency is one of the most treatable medical disorders of the elderly. IRON METABOLISM It is crucial to understand normal iron metabolism to understand iron deficiency and the anemia of chronic disease. Iron in food is largely in ferric form (Fe+++ ) which is reduced by stomach acid to the ferrous form (Fe++). In the jejunum two receptors on the mucosal cells absorb iron. The one for heme-iron (heme iron receptor) is very avid for heme-bound iron (absorbs 30-40%). The other receptor - divalent metal transporter (DMT1) - takes up inorganic iron but is less efficient (1-10%). Iron is exported from the enterocyte via ferroportin and is then delivered to the transferrin receptor (TfR) and then to plasma transferrin. Transferrin is the main transport molecule for iron. Transferrin can deliver iron to the marrow for the use in RBC production or to the liver for storage in ferritin. Transferrin binds to the TfR on the cell and iron is delivered either for use in hemoglobin synthesis or storage. Iron that is contained in hemoglobin in senescent red cells is recycled by binding to ferritin in the macrophage and is transferred to transferrin for recycling.
    [Show full text]
  • Prevalence and Management of Iron Overload in Pyruvate Kinase Deficiency
    LETTERS TO THE EDITOR Helsinki. In Lancaster, Pennsylvania, USA, in which all Prevalence and management of iron overload in enrolled patients are Amish, additional laboratory and pyruvate kinase deficiency: report from the Pyruvate radiological data were collected under a site-specific IRB- Kinase Deficiency Natural History Study approved protocol. All patients gave informed consent. The NHS enrolled 278 patients with PK deficiency from Pyruvate kinase (PK) deficiency is the most common June 2014 through April 2017 at 31 centers in 6 countries. red cell glycolytic enzyme defect causing hereditary non- A detailed description of the cohort is published else- spherocytic hemolytic anemia. Current treatments are where.2 Twenty-four patients were excluded due to the mainly supportive and include red cell transfusions and inability to confirm two pathogenic PKLR mutations. splenectomy.1 Regular red cell transfusions are known to Patients under one year old at enrollment were also result in iron overload; however, the prevalence and excluded (n=12) from this analysis, because ferritin is less spectrum of transfusion-independent iron overload in the reliably related to iron overload in this youngest age overall PK-deficient population has not been well group, leaving 242 participants reported herein. Patients defined. This analysis describes the prevalence and clini- were defined as regularly transfused if they had received cal characteristics of iron overload in patients enrolled in ≥6 transfusions in the 12 months prior to enrollment. At the PK Deficiency Natural History Study (NHS) with a enrollment, 82% (198/242) of patients were not receiving focus on those patients who are not regularly transfused.2 regular transfusions; 38% (53/138) of these patients had The PK deficiency NHS protocol (clinicaltrials.gov identi- iron overload as defined by ferritin.
    [Show full text]