Rare association of Hemoglobin variant Hb J (α mutation) with haemophilia A: case report

Authors

  • Bindu Deopa Department of Paediatrics, Dr. S. N. Medical College, Jodhpur, Rajasthan, India
  • Kapil Choradiya Department of Paediatrics, Dr. S. N. Medical College, Jodhpur, Rajasthan, India
  • Manish Parakh Department of Paediatrics, Dr. S. N. Medical College, Jodhpur, Rajasthan, India
  • Pawan Dara Department of Paediatrics, Dr. S. N. Medical College, Jodhpur, Rajasthan, India

DOI:

https://doi.org/10.18203/2349-3291.ijcp20174762

Keywords:

Electrophoresis, Haemoglobin variant

Abstract

Hb J α mutation is a rare haemoglobin variant. No case of Hb J α mutation with hemophilia A has been reported. Here we are reporting a rare variant of Hb J α mutation found accidentally in our patient in which electrophoresis done to find out the cause of severe anemia with hepato-splenomegaly and association of this hemoglobin variant with Hemophilia A. 

References

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Mondal SK, Mandal S. Prevalence of thalassemia and hemoglobinopathy in eastern India: a 10-year high-performance liquid chromatography study of 119,336 cases. Asian J Transfusion Sci. 2016;10(1):105.

Carcao M, Moorehead P, Lillicrap D. Hemophilia A and B. In: Hoffman R, Benz EJ Jr, Silberstein LE, et al, eds. Hematology: Basic principles and practice. 6th ed. Philadelphia, PA: Elsevier Saunders; 2012;137.

Bhat VS, Mandal AK, Mathew B. Identification of a rare hemoglobin variant HbJ-Rajappen [alpha90 (FG2) Lys→ Thr] using mass spectrometry. Ind J Clini Biochem. 2012;27(4):414-6.

Pant L, Kalita D, Singh S, Kudesia M, Mendiratta S, Mittal M, et al. Detection of abnormal hemoglobin variants by HPLC method: common problems with suggested solutions. International Scholarly Research Notices. 2014;2014.

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Published

2017-10-24