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First case of Hb Fontainebleau with sickle haemoglobin and other non-deletional α gene variants identified in neonates during newborn screening for sickle cell disorders
  1. Dipti S Upadhye1,
  2. Dipty Jain2,
  3. Sona B Nair1,
  4. Anita H Nadkarni1,
  5. Kanjaksha Ghosh1,
  6. Roshan B Colah1
  1. 1National Institute of Immunohaematology (Indian Council of Medical Research), K.E.M Hospital Campus, Mumbai, Maharashtra, India
  2. 2Government Medical College, Nagpur, Maharashtra, India
  1. Correspondence to Dr Roshan B Colah, Scientist F, National Institute of Immunohaematology (Indian Council of Medical Research), 13th floor, New Multistoried Building, K.E.M. Hospital Campus, Parel, Mumbai 400012, India; colahrb{at}gmail.com

Abstract

Objective To evaluate the significance of non-deletional α gene variants identified in neonates during newborn screening for sickle cell disorders.

Methods 1534 newborn babies were screened in the last 2 years for sickle cell disease using a targeted screening approach. Investigations included a complete blood count, high performance liquid chromatography analysis, cellulose acetate electrophoresis (pH 8.9), heat stability test, restriction digestion and Amplified Refractory Mutation System for confirmation of sickle haemoglobin (Hb S), α genotyping by multiplex PCR and DNA sequencing.

Results Three non-deletional α gene variants, Hb Fontainebleau, Hb O Indonesia and Hb Koya Dora, were identified in heterozygous condition in newborns. This is the first report of Hb Fontainebleau in association with Hb S. The baby had anaemia at birth (Hb 11.4 g/dl) with no cyanosis, icterus or need for transfusion. She had occipital encephalocoele and was operated on day 24 to remove the mass. The baby diagnosed with Hb O Indonesia in combination with Hb S also had a low haemoglobin level of 12.7 g/dl.

Conclusion Newborn screening for sickle cell disorders also enabled us to identify three α globin chain variants. Two babies who inherited Hb Fontainebleau and Hb O Indonesia along with Hb S had reduced Hb levels at birth and need to be followed up.

  • Non-deletional α gene variants
  • Hb Fontainebleau, Hb O Indonesia and Hb Koya Dora
  • newborn screening
  • haematology
  • haemoglobinopathy
  • molecular biology
  • molecular genetics
  • haemolytic anaemia

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Footnotes

  • Funding Funding provided by the Department of Biotechnology, Government of India.

  • Competing interests None.

  • Patient consent Obtained.

  • Ethics approval Approval provided by the Institutional Ethics committee.

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

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