title: HbD Punjab/HbQ India Compound Heterozygosity: An Unusual Association.
abstract: BACKGROUND
  Haemoglobinopathies are the commonest hereditary disorders in India and pose a major health problem. Both beta thalassaemia and structural haemoglobin variants are relatively common in northwestern India. Here we report a 29-year-old Sindhi female who was referred to us for a haemoglobinopathy work up and genetic counseling since her spouse was a classical beta thalassaemia carrier.
  
  
  METHODS
  A complete blood count was done on an automated cell counter. Haemoglobin analysis was carried out using HPLC Variant Haemoglobin Testing System. The cellulose acetate electrophoresis was carried out [pH 8.9]. Confirmation of mutations was done by automated DNA sequencing.
  
  
  RESULTS
  HPLC analysis showed four major peaks, HbA0, a peak in the HbD window, an unknown peak [retention time 4.74 minutes] and a peak in the HbC window. The HbA2 level was 2.2%, and the HbF level was 0.7%. Cellulose acetate electrophoresis at alkaline pH, a slow moving band was seen at the HbS/D position along with a prominent band at the HbA2 position. DNA sequencing of the β and α genes showed presence of the two hemoglobin variants: Hb D [β 121GAA → CAA] and Hb Q [α 64 AAG → GAG]. The δ globin gene was normal. The additional peak in the HbC window was due to the formation of a heterodimer hybrid.
  
  
  CONCLUSIONS
  Both HbD Punjab and HbQ India are relatively common in India, but their co-inheritance has not been described in the country. This case is the third report of compound heterozygosity for HbQ India/HbD Punjab haemoglobinopathy globally and the second one from India.
authors.affiliation: National Institute of Immunohaematology, Indian Council of Medical Research, 13 Floor, New Multistoried Building, King Edward Memorial Hospital Campus, Parel, Mumbai - 4000 12.
authors.forename: Stacy
authors.initials: S
authors.lastname: Colaco
authors.affiliation: National Institute of Immunohaematology, Indian Council of Medical Research, 13 Floor, New Multistoried Building, King Edward Memorial Hospital Campus, Parel, Mumbai - 4000 12.
authors.forename: Reema
authors.initials: R
authors.lastname: Surve
authors.affiliation: National Institute of Immunohaematology, Indian Council of Medical Research, 13 Floor, New Multistoried Building, King Edward Memorial Hospital Campus, Parel, Mumbai - 4000 12.
authors.forename: Pratibha
authors.initials: P
authors.lastname: Sawant
authors.affiliation: National Institute of Immunohaematology, Indian Council of Medical Research, 13 Floor, New Multistoried Building, King Edward Memorial Hospital Campus, Parel, Mumbai - 4000 12.
authors.forename: Anita
authors.initials: A
authors.lastname: Nadkarni
authors.affiliation: National Institute of Immunohaematology, Indian Council of Medical Research, 13 Floor, New Multistoried Building, King Edward Memorial Hospital Campus, Parel, Mumbai - 4000 12.
authors.forename: Kanjaksha
authors.initials: K
authors.lastname: Ghosh
authors.affiliation: National Institute of Immunohaematology, Indian Council of Medical Research, 13 Floor, New Multistoried Building, King Edward Memorial Hospital Campus, Parel, Mumbai - 4000 12.
authors.forename: Roshan
authors.initials: R
authors.lastname: Colah