Serendipity: A Rare Discovery of Haemoglobin D-Iran in An Indian Female During Routine Antenatal Screening for β-Thalassemia

意外发现:在对一名印度女性进行β-地中海贫血常规产前筛查时,意外发现其体内存在罕见的血红蛋白D-伊朗型

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Abstract

Haemoglobin D is a rare form of haemoglobinopathy in homozygous form. However, the heterozygous form of the disease is clinically silent and relatively easier to find in North-West India, Pakistan and Iran. Haemoglobin D is sometimes found to be coexistent with Haemoglobin S and/or Thalassaemia leading to clinically significant conditions like sickle cell anaemia with mild to moderate splenomegaly. In India the more prevalent form is Haemoglobin D-Punjab (also known as Hb D- Los Angeles) which has a prevalence of 2% in Punjab and around 1% in Gujarat. However, the variant, Haemoglobin D- Iran is very rare in India in heterozygous as well as homozygous forms. This report is of a 36-year-old female, who visited for an antenatal check up. On analysing the blood sample using Agarose Gel Electrophoresis in Alkaline media, the migration of abnormal haemoglobin to haemoglobin S/D/G region was observed. Sickle cell solubility test was negative. On capillary electrophoresis, peak in the Haemoglobin D Zone was seen.

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