Advertisement

Indian Journal of Clinical Biochemistry

, Volume 34, Issue 1, pp 115–117 | Cite as

First Report of Association Between Rare α-Thalassemia Mutation (HBA1: c.298A>T) and Hb Fontainebleau (HBA2: c.64G>C)

  • Elham Ghadami
  • Ahmad Tamaddoni
  • Sadegh Sedaghat
  • Reza Tabaripour
  • Hadis Pourreza Baboli
  • Haleh Akhavan-NiakiEmail author
Case Report
  • 15 Downloads

Abstract

α-Thalassemia is one of the most common monogenic diseases worldwide. The combination of alpha-chain variants with thalassemia mutations may lead to clinical and hematological characteristics, which is of importance for genetic counseling. The present study describes for the first time a rare α1-globin nonsense mutation, codon 99 (HBA1: c.298A>T) associated with a α2-chain variant Hb Fontainebleau (HBA2: c.64G>C) in a family from northern Iran. The case is a 23-year-old man with hypochromic microcytic anemia that requested for prenatal diagnosis. The combination of α1-globin mutation and Hb Fontainebleau can cause clinical and hematologic features of thalassemia. This combination also highlights the important heterogeneity of alpha thalassemia in this part of the world.

Keywords

α-Thalassemia (α-thal) α-Globin gene Mutation Hb Fontainebleau 

Notes

Acknowledgements

We would like to thank all our colleagues at the Amirkola Genetic Center, Babol, Iran for their help and technical support.

Compliance with Ethical Standards

Conflict of interest

All the authors declares that they have no conflict of interest.

References

  1. 1.
    Bayat N, Farashi S, Hafezi-Nejad N, Faramarzi N, Ashki M, Vakili S, et al. Novel mutations responsible for alpha-thalassemia in Iranian families. Hemoglobin. 2013;37(2):148–59.PubMedGoogle Scholar
  2. 2.
    Eftekhari H, Tamaddoni A, Mahmoudi Nesheli H, Vakili M, Sedaghat S, Banihashemi A, et al. A comprehensive molecular investigation of alpha-thalassemia in an Iranian cohort from different Provinces of North Iran. Hemoglobin. 2017;41(1):32–7.CrossRefGoogle Scholar
  3. 3.
    Khosravi A, Jalali-Far M, Saki N, Hosseini H, Galehdari H, Kiani-Ghalesardi O, et al. Evaluation of α-globin gene mutations among different ethnic groups in Khuzestan Province, Southwest Iran. Hemoglobin. 2016;40(2):113–7.CrossRefGoogle Scholar
  4. 4.
    Mashon RS, Nair S, Sawant P, Colah RB, Ghosh K, Das S. Hemoglobin Fontainebleau [a21(B2)Ala > Pro]: the second report from India. Indian J Hum Genet. 2013;19(3):352–4.CrossRefGoogle Scholar
  5. 5.
    Purohit A, Aggarwal M, Colah RB, Nadkarni AH, Pati HP. A case of iron deficiency anemia with co-existing Hb Fontainebleau. Mediterr Journal Hematol Infect Dis. 2014;6(1):e2014051.CrossRefGoogle Scholar
  6. 6.
    Thom CS, Dickson CF, Gell DA, Weiss MJ. Hemoglobin variants: biochemical properties and clinical correlates. Cold Spring Harbor Perspect Med. 2013;3(3):a011858CrossRefGoogle Scholar
  7. 7.
    Turner A, Sasse J, Varadi A. Hb Fontainebleau (HBA2: c. 64G>C) in the United Arab Emirates. Hemoglobin. 2014;38(3):216–20.CrossRefGoogle Scholar
  8. 8.
    Upadhye DS, Jain D, Nair SB, Nadkarni AH, Ghosh K, Colah RB. 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. J Clin Pathol. 2012;65(7):654–9CrossRefGoogle Scholar
  9. 9.
    Valaei A, Karimipoor M, Kordafshari A, Zeinali S. Molecular basis of alpha-thalassemia in Iran. Iran Biomed J. 2018;22(1):6–14.PubMedPubMedCentralGoogle Scholar

Copyright information

© Association of Clinical Biochemists of India 2018

Authors and Affiliations

  1. 1.Department of Genetics, Faculty of MedicineBabol University of Medical SciencesBabolIran
  2. 2.Non-Communicable Pediatric Diseases Research Center, Health Research InstituteBabol University of Medical SciencesBabolIran
  3. 3.Department of Internal Medicine, Ayatollah Roohani HospitalBabol University of Medical SciencesBabolIran
  4. 4.Department of Cellular and Molecular Biology, Babol BranchIslamic Azad UniversityBabolIran
  5. 5.Genetic Laboratory of Amirkola Children HospitalBabol University of Medical SciencesBabolIran

Personalised recommendations