Compound heterozygote for hemoglobin C and beta-zero thalassemia in Thailand
DOI:
https://doi.org/10.69898/jhtm.35.2025.274403Keywords:
Hemoglobin C, Beta(0)-thalassemiaAbstract
Hemoglobin (Hb) C is a hemoglobinopathy caused by the amino acid substitution of glutamic acid (Glu) to lysine (Lys), (GAG>AAG), at codon 6 of the beta-globin gene. Subjects with Hb C trait have no clinical symptoms, while patients with Hb C disease (homozygous Hb C), or compound heterozygote of Hb C and Hb S, Hb E or other beta-globin mutations may have mild to moderate chronic hemolytic anemia. We investigated cause of anemia in a 30-year-old Thai female. The result from CBC showed Hb of 10.2 g/dL and mean corpuscular volume of 64 fL. Therefore, Hb typing using high performance liquid chromatography (HPLC) was performed. The result from HPLC showed Hb F of 17.6%, Hb A2 of 3.8%, and Hb C of 74.4%. The \beta-globin gene sequencing was investigated and showed HBB: c.19G>A (Hb C) and HBB: c.-74_31del (105 bp deletion). As a result, this patient received a diagnosis of compound heterozygosity for Hb C/ \beta0-thalassemia.
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