Suhaib Ahmed, Masood Anwar.
Hematological and Genetic features of db-thalassemia in Pakistan.
J Coll Physicians Surg Pak Jul ;16(1):19-22.

Objective: To describe the haematological and genetic features of db-thalassaemia in Pakistani patients. Design: Descriptive case series. Place and Duration of Study: Department of Pathology, PNS Shifa, Karachi and Department of Haematology, Armed Forces Institute of Pathology, Rawalpindi, from January 1994 to April 2004. Patients and Methods: Thirteen individuals from six unrelated Pakistani families with a haematological diagnosis of dbthalassaemia were studied. A brief clinical history, and the results of blood counts, absolute values, Hb-F, Hb-A2, and haemoglobin electrophoresis were recorded. The DNA from each subject was first screened for the b-thalassaemia mutations found in the Pakistani population. The samples were then screened for the Inv/Del Gg(Agdb)o. Results: The subjects included six heterozygotes, six homozygotes and one compound heterozygote of db- and b-thalassemia. All heterozygotes and 4/6 homozygotes were asymptomatic. One homozygote had thalassemia intermedia while another had transfusion dependent anaemia. The mean Hb, TRBC, MCV, MCH, Hb-F and Hb-A2 in db-thalassaemia heterozygotes were 11.6 g/dl, 5.37 x 1012/L, 70.9 fl, and 21.7 pg, 14% and 2.6% respectively. The same values in the four untransfused homozygotes were 10.6 g/dl, 5.34x1012/L, 69.2fl, and 20.8pg, 100% and 0% respectively. The mutation analysis revealed that all 13 individuals had the same Inv/Del Gg(Agdb)o. Conclusion: db-thalassaemia is a rare disorder in Pakistan. Although the clinical picture is very mild its combination with b-thalassaemia trait can produce a sever transfusion dependent thalassaemia. The DNA based diagnosis is possible in the prenatal as well as the postnatal period.

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