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Updated: Jun 27, 2025
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[Cases Analysis of Hemoglobin H Disease Caused by HBA2:c.2T>C and HBA2:c.2delT Mutations]
Qiu-Hua Wang1, Xing-Yuan Chen2, Ning Tang1
1Department of Medical Genetics, Liuzhou Key Laboratory of Birth Defects Prevention and Control, Liuzhou Maternity and Child Healthcare Hospital, Liuzhou 545001, Guangxi Zhuang Autonomous Region, China.
Insights
Rare initiation codon mutations in the HBA2 gene, specifically HBA2:c.2T>C and HBA2:c.2delT, can cause alpha-thalassemia. When combined with Southeast Asian deletion, these mutations lead to hemoglobin H disease, informing genetic counseling.
Area of Science:
- Genetics
- Hematology
- Molecular Biology
Background:
- Alpha-thalassemia is a common inherited blood disorder caused by reduced or absent synthesis of alpha-globin chains.
- Initiation codon mutations in the HBA2 gene are rare but can significantly impact globin production.
- The Southeast Asian deletion (--SEA) is a common alpha-thalassemia deletion prevalent in Southeast Asia.
Objective:
To investigate two cases of rare pathogenic genes, initiation codon mutations in HBA2 gene, combined with Southeast Asian deletion and their family members to understand the relationship of HBA2:c.2T>C and HBA2:c.2delT mutations with clinical phenotype.
Methods:
The peripheral blood of family members was obtained for blood cell analysis and capillary electrophoresis hemoglobin analysis. Gap-PCR and reverse dot blotting (RDB) were used to detect common types of mutations in ɑ-thalassaemia gene. Sanger sequencing was used to analyze HBA1 and HBA2 gene sequence.
Results:
Two proband genotypes were identified as --SEA/αα with HBA2:c.2T>C and --SEA/αα with HBA2:c.2delT. HBA2:c.2T>C/WT and HBA2:c.2delT/WT was detected in family members. They all presented with microcytic hypochromic anemia.
Conclusion:
When HBA2:c.2T>C and HBA2:c.2delT are heterozygous that can lead to static α-thalassemia phenotype, and when combined with mild α-thalassemia, they can lead to the clinical manifestations of hemoglobin H disease. This study provides a basis for genetic counseling.
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