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

Autor: Chandel RS; Junior Resident, Department of Biochemistry, Grant Government Medical College and Sir J.J. Group of Hospitals , Mumbai, India., Roy A; Junior Resident, Department of Biochemistry, Grant Government Medical College and Sir J.J. Group of Hospitals , Mumbai, India., Abichandani LG; Professor, Department of Biochemistry, Grant Government Medical College and Sir J.J. Group of Hospitals , Mumbai, India .
Jazyk: angličtina
Zdroj: Journal of clinical and diagnostic research : JCDR [J Clin Diagn Res] 2015 Jul; Vol. 9 (7), pp. BD01-2. Date of Electronic Publication: 2015 Jul 01.
DOI: 10.7860/JCDR/2015/11771.6142
Abstrakt: 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.
Databáze: MEDLINE