A compound heterozygous −29 A>G and IVS-I-1 G>A mutation of HBB gene leading to β-thalassemia intermedia in a Syrian patient: A case report
Beta-thalassemia (β-thal) is an inherited hemoglobin disorder, characterized by the absence of or reduced hemoglobin chains that result in microcytic hypochromic anemia. In this case, we describe a patient case originating from Syria, and his hematology data were (Hb A1 = 12.5%, Hb F = 83.7, Hb A2 =...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Taylor & Francis Group
2019-01-01
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| Series: | Cogent Medicine |
| Subjects: | |
| Online Access: | http://dx.doi.org/10.1080/2331205X.2019.1581448 |
| Summary: | Beta-thalassemia (β-thal) is an inherited hemoglobin disorder, characterized by the absence of or reduced hemoglobin chains that result in microcytic hypochromic anemia. In this case, we describe a patient case originating from Syria, and his hematology data were (Hb A1 = 12.5%, Hb F = 83.7, Hb A2 = 3.8%). The molecular analysis based on direct sequencing of the β-globin gene showed a rare combined heterozygous IVS-I-1 (G>A) (HBB:c.92+1 G>A)/−29 A > G (HBB:c.−79 A>G) causing β°/β+ thalassemia intermedia. Polymerase chain reaction–restriction fragment length (PCR–RFLP) method revealed that the patient had a homozygous (TT) for Xmn-1 locus. Our result showed the presence of rare β-thal (−29 A>G) mutation associated with IVS-I-1 (G>A). Our finding suggests the presence of this mutation resulted from old migrations. |
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| ISSN: | 2331-205X |