HEMOGLOBIN ELECTROPHORESIS AND GENETIC CHARACTERISTICS IN HbH DISEASE PATIENTS AT CAN THO HEMATOLOGY BLOOD TRANSFUSION HOSPITAL
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Abstract
Background: Alpha thalassemia is a prevalent blood disorder, with intermediate forms like HbH disease posing significant burdens. Hemoglobin electrophoresis is the initial diagnostic step, while genetic testing provides definitive diagnosis and classification of HbH types. Objectives: To determine the characteristics of hemoglobin electrophoresis, genetic profiles, and their correlations in HbH disease. Materials and methods: This study enrolled 50 patients with HbH disease at Can Tho Hematology Blood Transfusion Hospital without disease affecting globin metabolism. All patients underwent Hemoglobin electrophoresis and genetic testing. Results: The study found an average HbA percentage of 85.51 ± 8.1% and HbH percentage of 11.32 ± 7.38%. HbH percentage inversely correlated with red blood cell count (r = -0.438), hemoglobin (r = -0.356), and RDW-CV (r = -0.365), and positively correlated with MCV (r = 0.547), MCH (r = 0.31), and reticulocyte percentage (r = 0.4486). The HbH percentage was lower in the deletion group (8.21 ± 5.24%) compared to the non-deletion group (15.28 ± 8.13%), with p = 0.005. HbH percentage predicted the mutation type reasonably well, with an area under the curve of 0.775. Conclusions: Hemoglobin electrophoresis results showed a decreased but still predominant HbA percentage, followed by HbH. A significant proportion of patients had non-deletional HbH disease. Increased HbH percentage depends not only on the number of lost α genes but also on point mutations.
Keywords
alpha thalassemia, HbH disease, hemoglobin electrophoresis, gene testing
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References
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