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Annals of Hematology

, Volume 90, Issue 3, pp 357–358 | Cite as

Diverse phenotypic expression of sickle cell hemoglobin C disease in an Indian family

  • Dilip K. Patel
  • Siris Patel
  • Ranjeet S. Mashon
  • Preetinanda M. Dash
  • Malay B. MukherjeeEmail author
Letter to the Editor

Dear Editor,

Compound heterozygosity for βSC is common in African populations and is associated with remarkable clinical heterogeneity [1]. Although the presence of HbC gene, along with β thalassemia, has been reported from India [2]; however, to the best of our knowledge, this is the first report of sickle cell hemoglobin C (HbSC) disease from India.

A 25-year-old female was referred to us with hemolytic anemia and occasional episodes of painful crisis (0.6 episodes/ year) predominantly in both the lower limbs around the knee joint. On physical examination, the spleen was palpable (2 cm below the left costal margin). Her Hb was 10.3 g/dl, mean cell hemoglobin (MCH), 29.1 pg; mean cell volume (MCV), 79 fl; mean cell hemoglobin concentration (MCHC), 36.8% with a positive sickling test. Automated high-performance liquid chromatography using the β Thalassemia Short Program on Bio-Rad Variant system showed the presence of HbS, 36.1%; HbC, 42.3%; HbA 2, 3.5%, and HbF, 17.9%. Family...

Keywords

Thalassemia Mean Cell Volume Mean Cell Hemoglobin Concentration Painful Crisis Mean Cell Hemoglobin 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Notes

Acknowledgement

This work was supported by a grant from the Department of Biotechnology, Government of India, New Delhi, India.

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Copyright information

© Springer-Verlag 2010

Authors and Affiliations

  • Dilip K. Patel
    • 1
  • Siris Patel
    • 1
  • Ranjeet S. Mashon
    • 1
  • Preetinanda M. Dash
    • 1
  • Malay B. Mukherjee
    • 2
    Email author
  1. 1.V.S.S. Medical CollegeBurlaIndia
  2. 2.Hemato-GeneticsNational Institute of Immunohaematology (ICMR)MumbaiIndia

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