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De novo heterozygous Hb G-Waimanalo (α64(E13)Asp>Asn, CTG>CCG; HBA1:c.193G>A) variant in a sickle cell disease patient of an Indian tribe
  1. Ravindra Kumar1,
  2. Sweta Mishra1,
  3. Ram Swaroop Uikey1,
  4. Anil Gwal1,
  5. Amol Mun1,
  6. Praveen K Bharti2,
  7. Rajasubramaniam Shanmugam1
  1. 1Genetic Disorders, ICMR-National Institute of Research in Tribal Health, Jabalpur, India
  2. 2Vector Borne Diseases, ICMR-National Institute of Research in Tribal Health, Jabalpur, India
  1. Correspondence to Dr Rajasubramaniam Shanmugam, Genetic Disorders, ICMR-National Institute of Research in Tribal Health, Jabalpur, MP 482003, India; raja.rmrct{at}gmail.com

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Haemoglobinopathies (thalassaemia and haemoglobin (Hb) variants) are the most common of all inherited monogenic disorders. More than 1800 mutations in alpha or beta globin genes are known to be responsible for haemoglobinopathies.1 The clinical spectrum of haemoglobinopathies is quite heterogeneous and depends on the underlying mutations. Here, we report, a de novo emergence of rare alpha chain variant Hb G-Waimanalo in a sickle cell disease patient.

An 8-year-old Gond tribal girl born from a non-consanguineous marriage was referred to Division of Genetic Disorders at Indian Council of Medical Research-National Institute of Research in Tribal Health (ICMR-NIRTH) for differential diagnosis for haemolytic anaemia. She had a history of severe anaemia (Hb 47 g/L) and frequent bone and joint pain. She also had a history of multiple blood transfusions since the age of 3 years. Her weight was below 3 SD (17 kg). She exhibited pallor, icterus and typical thalassemic facial features with hepatosplenomegaly (spleen 9 cm and liver 5 cm below respective costal margins). Serum bilirubin count was 87.72 µmol/L (direct bilirubin=6.6 µmol/L and indirect bilirubin=81.57 µmol/L). Serum aspartate aminotransferase was 47.3 mg/dL, alanine aminotransferase was 19.6 mg/dL. Serum lactate dehydrogenase levels were also elevated (540 IU/L) suggesting haemolytic anaemia. Direct Coombs test was negative and glucose six phosphate dehydrogenase levels were within normal limits. Cellulose acetate Hb electrophoresis at alkaline pH (8.4) showed the presence of three Hb variants (figure 1A). One faint band was seen just below the HbA band, and other two bands were seen at position corresponding …

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Footnotes

  • Handling editor Mary Frances McMullin.

  • Contributors RK (design, analysis, literature search, manuscript writing), SM (execution, literature search, manuscript writing), RSU (sampling, experiment), AG (experiment), AM (experiment), PKB (concept, MS), RS (final approval).

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent for publication Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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