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Newborn Screening: Background Recent Politics And MarylandMaryland DepartmentDepartment ofof HealthHealth && MentalMental HygieneHygiene A Publication of Maryland’s State Public Health Laboratory June 2008 Volume 12, Number 6 Hemoglobinopathies Newborn Screening: Background Recent Politics and Hemoglobin is the iron-containing, multisubunit protein Law in Maryland found in red blood cells that transports oxygen from the lungs and transfers it throughout the body. It is a conju- On April 24, 2008, Governor Martin O’Malley signed House gated heme-protein composed of four heme groups and Bill 216-20081 into law. This signing signaled a new chapter two pairs of polypeptide chains. Differences in peptide in the 47-year history of the State of Maryland’s public number and type of amino acid in the polypeptide chains health program to identify treatable hereditary disorders in account for the many types of hemoglobin molecules newborn babies. The new law, entitled “Hereditary and found in the human population. Congenital Disorders—Newborn Screening”: In the normal infant at birth, the fetal hemoglobin molecule consists of a pair of alpha and gamma protein chains. • Designates the Department’s Public Health Laboratory as the sole laboratory that may screen the State’s new- After birth, beta chain production replaces the gamma born population for hereditary disorders; chains to produce the normal adult hemoglobin - a pair of (Continued on page 5) alpha and a pair of beta chains. Mutations in the genes that code for these polypeptides can cause changes in structure and/or function of the hemoglobin molecule and lead to disease. Genetic mutations can result in a variety of hemoglobin dysfunctions such as: • Alteration of protein structure A mutation of a single subunit (alpha or beta) that does not alter the molecular structure or functionality of hemoglobin, but causes changes in normal hemoglobin function (Continued on page 2) Inside this issue: Hemoglobinopathies Page 1 Pictured top row, from left: Shawn Cain, OGA, DHMH; Anne Hub- Newborn Screening: Page 1 bard, OGA, DHMH; Dr. Susan Panny, DHMH; and Mathew Palmer, Recent Politics and Law in Maryland The Johns Hopkins University. Bottom row, from left: The Hon. Anthony Brown, Lieutenant Governor; The Hon. Mike Miller, Jr., LABORATORY STATISTICS Page 8 President, Senate; The Hon. Martin O’Malley, Governor; The Hon. Michael Busch, Speaker of the House. Vol. 12, No. 6 1 June 2008 Figure 1: TLIF gels. Hemoglobin samples applied to agarose gels migrate to their isoelectric points and produce focused hemoglobin bands. (Source: Laboratories Administration) F C A2 A S F A F F Barts A Figure 1a: Normal Figure 1b: Normal adult Figure 1c: Homozygous S Figure 1d: Homozygous Figure 1e: Hemoglobin fetal hemoglobin, note hemoglobin, note pre- hemoglobin, mutated and C, also mutated, note Barts, indicating gamma heavy F band at top. dominant A band and lack indicative of sickle cell the absence of chain tetramers and a of F. disease. Hemoglobin A in figures condition called alpha 1c and 1d. thalassemia. (Continued from page 1) to their pIs and produce concentrated or focused hemo- Hemoglobinopathies globin bands. The relative positions of common hemoglo- bins from the acidic end (anode) of the gel to the basic producing a diseased state. Sickle cell disease exempli- end (cathode) are: H, Barts, N, J, A1C, A, F, S, E/A2, and fies this type of dysfunction.4 C hemoglobins.3 The advantage of using the isoelectric focusing method to screen for hemoglobins is the ability • Diminished production of hemoglobin subunits to isolate different variants present, which helps hema- Normal hemoglobin contains equal amounts of alpha and tologists identify the location of abnormalities. Maryland’s beta subunits. Diminished production of either subunit Newborn Screening Division, in collaboration with Isolab produces conditions known as thalassemias4. modified and optimized the TLIF and has been using this procedure since 1985. A normal hemoglobin pattern is • Abnormal association of normal subunits shown in Figure 1a. A single subunit of alpha chain and a single subunit of the beta chain combine to make normal hemoglobin. An ex- The second method employs high performance liquid ample mutation is alpha-thalassemia where 4 beta- chromatography (HPLC). This technique separates and globins associate due to scarcity of potential alpha chain determines area percentages for hemoglobins F, 4 partners. A,S,D,C, and E/A2. As the hemoglobins diffuse within the column, a chromatogram measuring the change in ab- Testing & result analysis sorbance versus retention time is graphed.3 The Labora- tories Administration scientists use this data to determine Since 1985, the Department’s Hemoglobin Laboratory in genotypes, based on the hemoglobins’ relative percents the Laboratories Administration has been servicing in descending order. HPLC is used as a confirmatory test Maryland citizens with quality and timely results. The of hemoglobin disorders. See figure 2. Newborn Screening Hemoglobin Laboratory received (Continued on page 3) 13,696 specimens in the first quarter of 2008. Among those, 459 possessed variant hemoglobin traits and 22 were diseased. Normal FS Sickle cell The Hemoglobin Laboratory uses two methods to detect disease abnormal hemoglobins in newborns and adults. The first is thin-layer isoelectric focusing (TLIF), which employs an electrophoretic technique that separates hemoglobins with high resolution. TLIF is based on the migration of hemoglobin proteins to their isoelectric points (pI) when placed under the influence of an electric field. The pH gradient is maintained by a mixture of amphoteric sub- stances that are incorporated in an agarose gel. When Figure 2: Sample chromatograms, measuring the change in absorbance hemoglobin samples are applied to the gel, they migrate versus retention time. Source: Laboratories Administration Vol. 12, No. 6 2 June 2008 (Continued from page 2) Hemoglobinopathies The common variants reported in various combination by the Laboratories Administration’s Hemoglobin Laboratory are: Hemoglobin F (fetal) (see Figure 1a): The primary oxy- gen transport protein in the fetus during the last seven months of fetal development is hemoglobin F. Fetal hemoglobin differs most from adult hemoglobin (hemoglobin A), because it is able to bind oxygen with is published monthly by the staff of the greater affinity than the adult form, allowing the develop- Laboratories Administration ing fetus better access to oxygen from the mother's blood- Department of Health & Mental Hygiene stream. In newborns, fetal hemoglobin is nearly com- 201 W. Preston Street Baltimore, MD 21201 pletely replaced by adult hemoglobin by approximately (Phone 410-767-6909) the twelfth week of postnatal life. Critical Link: Production Manager Georgia Corso Hemoglobin A (adult) (see Figure 1b): When fetal hemoglobin production is turned off after birth, normal Editorial Board: Jack DeBoy, Dr. P.H. newborns start producing hemoglobin A. Some patients Prince Kassim, Ph.D. produce hemoglobin S instead, indicating the presence of Fizza Majid, Ph.D. Robert Myers, Ph.D. sickle cell trait or sickle cell disease. Jim Svrjcek, B.A. Michael Wajda, M.S., J.D. Hemoglobin S (see Figure 1c): This hemoglobin is pre- Chengru Zhu, Ph.D. dominant in patients with sickle cell disease. The mutation Laboratories Administration: occurs in the beta chain, producing the molecular struc- S ture α2β 2. This molecular structure produces sickled Director (C-shaped) red blood cells which do not allow easy Jack DeBoy, Dr.P.H. passage of nutrients through the bloodstream. Accumula- Deputy Director for Scientific Programs tion of these cells forms clumps and blockages that Robert Myers, Ph.D. hamper and impede the proper distribution of oxygen Deputy Director for throughout the body. See figure 3. Regulatory & Administrative Programs Michael Wajda, M.S., J.D. Hemoglobin C (see Figure 1d): Results from a mutation C in the beta globin producing the molecular structure α2β 2. Hemoglobin C disease produces a mild hemolytic ane- Questions concerning technical content of this mia, splenomegaly, and earlier than usual breakdown of newsletter may be referred to Dr. Jack DeBoy at 410-767-6100 (Continued on page 4) Normal blood flow: Abnormal blood flow; Smooth disk-shaped cells move Sickled cells become sticky easily through blood vessels and clump together Blood flow becomes blocked to other vessels Normal red blood cell Normal red blood cell Sickled red blood cells Figure 3: An illustration showing a comparison of normal red blood cells and sickled red blood cells. (Illustration by Georgia Corso, Laboratories Administration, with scientific guidance from Sonja Skeete-Ridley and Diane Young.) Vol. 12, No. 6 3 June 2008 (Continued from page 3) and stem cell transplantation, prophylactic hydroxyurea, Hemoglobinopathies and gene therapy have all shown promising signs to improve the quality of life for these patients. Blood trans- hemoglobin which changes the plasticity of red blood fusions remains the primary treatment sickle cell patients cells. Hemoglobin C is found mostly in West Africa and receive to minimize pain. has been shown to protect against severe malaria.7 Pa- tients with this condition are expected to lead normal lives Bone marrow transplants offer a potential cure for pa- despite the episodes of pain, vision, joint or gallbladder tients with sickle cell disease, but are only used in cases problems they experience.5 of severe sickle cell disease with minimal organ damage. They require the donor’s stem cells to match closely with Hemoglobin Barts (see Figure 1e): A newborn with the the recipient’s. If there is not a close match, the donor’s presence of hemoglobin Barts at birth indicates a condi- new immune system may attack certain organs of the re- tion called alpha thalassemia (loss of alpha globin genes). cipient causing long-term sickness or death. Bone marrow 8 Instead of the normal α2β2 formation, the gamma hemo- transplants are successful 85% of the time. The majority globins develop in utero and arrange to form gamma of patients who are cured by transplants are children.
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