Skip to main content
SpringerLink
Log in

Identification of hemoglobin Q India (α 1–64 Asp–His) through ARMS-PCR. First report from Pakistan

  • Original Article
  • Published:
Annals of Hematology Aims and scope Submit manuscript

Abstract

Various hemoglobinopathies have been reported from Pakistan excepting the rare ones like hemoglobin Q India. Our purpose of study was to identify the mutation (α 1 64 aspartate to histidine) through amplification restriction mutation system-polymerase chain reaction (ARMS-PCR) in patients where hemoglobin Q has been detected via high performance liquid chromatography (HPLC) and also to evaluate the cost effectiveness of the two technologies. All patients irrespective of age and gender who underwent HPLC for identification of their hemoglobin variant during January 1, 2006 to January 30, 2007 were studied. The blood samples with unknown peak at a retention time of 4.7 min were evaluated at the molecular level. Analysis of HPLC tracings of 11,008 subjects over a thirteen-month period identified ten individuals with hemoglobin Q. Male to female ratio was 1:1.5 and their age was variable ranging from 1 to 49 (mean 22.8) years. The mean hemoglobin level was 11.3 g/dl while MCV (fl) and MCH (pg) were 73.0 and 20.8 respectively. HPLC showed an unknown peak of 17.7% which was detected as Hb Q. ARMS based PCR showed Hb Q specific product of 370 bp and also an amplified product of 766 bp as the control fragment in these samples. This is the first ever report that documents the presence of Hb Q India (α 64 Asp to His) in Pakistani population. We recommend that HPLC be used as a useful screening tool especially in developing countries where PCR facilities may not be accessible.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1
Fig. 2

Similar content being viewed by others

References

  1. Wiwanitkit V (2005) Phylogenetic tree of hemoglobin Q disorders. The Internet J Hematol 2(1):1–4

    Google Scholar 

  2. Dash S, Huisman TH (1988) Hemoglobin Q India (64 (E13) Asp–His) and beta thalassemia: a case report from Punjab (North India). Eur J Hematol 40:281

    Article  CAS  Google Scholar 

  3. Luan Eng LI, Pillay RP, Thuraisingham V (1966) Further cases of Hb Q-H Disease. Blood 28(6):830–839

    Google Scholar 

  4. Nigam PK, Sharma S, Sareen R, Paul V, Lal A (2006) Lack of precision in HbA1c values on variant II in cases of hemoglobin Q India. Ind J Clinic Bioch 21(2):72–75

    CAS  Google Scholar 

  5. Desai DV, Dhanani H, Kapoor AK, Yeluri SV (2004) Hb Q-India in a Sindhi family: an uncommon hemoglobin variant. Lab Hematol 10:212–214

    Article  PubMed  Google Scholar 

  6. Abraham R, Thomas M, Britt R, Fisher C, Old J (2003) Hb Q India: an uncommon variant diagnosed in three Punjabi patients with diabetes is identified by a novel DNA analysis test. J Clin Pathol 56:296–299

    Article  PubMed  CAS  Google Scholar 

  7. Fuchareon S, Winichagoon P (1987) Hemoglobinopathies in Southeast Asia. Hemoglobin 11:65–88

    Article  Google Scholar 

  8. Wiwanitkit V (2006) Secondary and tertiary structure aberration of alpha globin chain in hemoglobin Q-India disorder. Indian J Pathol Microbiol 49(4):491–494

    PubMed  Google Scholar 

  9. Sukumaran PK, Merchant SM, Desai MP, Wiltshire BG, Lehmann H (1972) Haemoglonin Q India (α 64(E13) aspartic acid–histidine) associated with β-thalassemia observed in three Sindhi families. J Med Genetics 9:436–442

    Article  CAS  Google Scholar 

  10. Panigrahi I, Bajaj J, Chatterjee T, Saxena R, Mahapatra M, Pati HP (2005) Hb Q India: is it always benign? Am J Hematol 78:245–247

    Article  PubMed  CAS  Google Scholar 

  11. International Committee for Standardization in Hematology (1978) Simple electrophoretic system for presumptive identification of abnormal hemoglobins. Blood 52(5):1058–1064

    Google Scholar 

  12. Dash S, Huisman TH (1988) Hemoglobin Q India (64(E13) Asp–His) and beta thalassemia: a case report from Punjab (North India). Eur J Haematol 40:281

    Article  PubMed  CAS  Google Scholar 

  13. Sagnet H, Morineaud JP, Delprat J et al (1968) A rare hemoglobinosis: the association of hemoglobin Q and alpha thalassemia. Med Trop (Mars) 28:133–138

    CAS  Google Scholar 

  14. Qin WB, Baysal E, Wong KF et al (1994) Quantities of αQ chain variant in heterozygotes with and without a concomitant β-thalassemia trait. Am J Hematol 45:91–93

    Article  PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Pathology and Microbiology, The Aga Khan University Hospital, Karachi, Pakistan

    Bushra Moiz, Tariq Moatter, Mashhooda Rasool Hashmi, Toheed Kauser, Amna Nasir & Mohammad Khurshid

  2. Department of Biological and Biomedical Sciences, The Aga Khan University Hospital, Karachi, Pakistan

    Nazish Hashmi

Authors
  1. Bushra Moiz
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Tariq Moatter
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Mashhooda Rasool Hashmi
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Nazish Hashmi
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Toheed Kauser
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Amna Nasir
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Mohammad Khurshid
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Bushra Moiz.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Moiz, B., Moatter, T., Hashmi, M.R. et al. Identification of hemoglobin Q India (α 1–64 Asp–His) through ARMS-PCR. First report from Pakistan. Ann Hematol 87, 385–389 (2008). https://doi.org/10.1007/s00277-007-0431-2

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00277-007-0431-2

Keywords

Search

Navigation