GATA1 Thrombocytopenia



Germline mutations in the GATA1 gene located on the X chromosome result in variable defects in platelet and sometimes erythrocyte and neutrophil formation. Affected boys usually have moderate to severe bruising and bleeding problems, marked thrombocytopenia, and average to large-sized platelets. Other clinical features may include erythrocytic anemia, globin gene transcription defects, and porphyria. Female carriers may show mild symptoms. Unlike X-linked Wiskott-Aldrich Syndrome, eczema and immunodeficiency are absent. Molecular diagnosis of this disorder is important to distinguish it from the more common immune thrombocytopenia purpura, and to establish optimal treatment. Mutations in GATA1 are also known to cause transient myeloproliferative disorder and megakaryoblastic leukemia in children with Down syndrome.

GATA1 mutations are inherited in an X-linked recessive fashion. GATA1 encodes a transcription factor involved in differentiation of erythrocytes and megakaryocytes. Nearly all causative mutations reported to date have been missense mutations involving amino acids 205-218 encoded in exon 4. However, an exon 2 splicing mutation was recently reported that led to patients with macrocytic anemia and neutropenia, but with normal platelet counts. Connections are beginning to be forged between the specific mutation and phenotype. For example, deletions or duplications in exon 2 of the GATA1 gene that result in a frameshift and premature protein termination are often associated with transient myeloproliferative disorder and megakaryoblastic leukemia in children with Down syndrome

Methodology: Sequencing of entire coding region

Purpose: Confirmation of Clinical Diagnosis

Test Requisition: Sequencing Requisition

Specimen Requirements: 2-5 mL Blood- Lavender Top Tube

CPT Codes: 81479 Cost: $600.00

Turn-around-time: 5-6 weeks

Shipping Information


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9. Mundschau, G. et al. (2003). "Mutagenesis of GATA1 is an initiating event in Down syndrome leukemogenesis". Blood101(11):4298-300. PubMed ID: 12560215

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Contact Information
Genetics Laboratory
University of Oklahoma Health Sciences Center
1122 NE 13 Street, Suite 1400, Oklahoma City, OK 73104
Phone: (405) 271-3589 |Fax: (405) 271-7117 Email: Dr. Shibo Li
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