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Review of clinical and hematological profile of hemoglobin D cases in a single centre

1 Centre for Community Medicine, AIIMS, New Delhi, India
2 Department of Hematology, AIIMS, New Delhi, India

Correspondence Address:
Neha Singh,
Centre for Community Medicine, AIIMS, New Delhi
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/jmms.jmms_165_22

Introduction: Hemoglobin D Punjab is a common hemoglobin D variant, which is essentially known to cause a mild disease even in homozygous state. Heterozygous state of hemoglobin D Punjab with sickle cell is the only presentation when a severe disease may be expected. We aim to study the spectrum of clinical and haematological profile of all case of haemoglobin D, reported at an apex referral centre of the country. Material and Methods: This is a record based retrospective study of cases of hemoglobin D Punjab from hematology OPD of a apex medical care centre. The clinical and hematological findings of 30 cases with genotype/phenotype of hemoglobin D Punjab were recorded from physical records and electronic data maintained at the institute. The cases were divided into homozygous Hb D Punjab, Double heterozygous hemoglobin S and D, Hemoglobin D-β-thalassemia, and Hemoglobin D trait. Results: The reported 30 cases consisted of 3 cases of homozygous Hb D Punjab, 8 cases of co-mutation of Hb D and beta thalassemia, 6 cases of co-mutation of Hb D with sickle cell and 13 cases of Hb D trait. All three cases of Hb D disease were mild to moderately symptomatic with co-existent splenomegaly. Out of the 8 cases reported of Hb D-β-thalassemia, three cases were found to have moderate anemia and one with severe anemia. The MCV of all participants were reduced, while, MCHC of all cases was within normal range. Among the 6 cases of compound heterozygous Hb D and S Disease two had hemolytic faces and three cases had splenomegaly. Blood transfusion was required by four out of six cases at varied frequency. Conclusion: We find the spectrum of symptoms presented by the cases of hemoglobin D Punjab is varied and few cases may require blood transfusion and medical care with follow up even in absence of heterozygous hemoglobin S inheritance.

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