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Kumar BV, Choccalingam C, Samuel P. Incidental Identification of Possible Delta-Beta Thalassemia Trait in a Family: A Rare Cause of Elevated Hb F. J Clin Diagn Res. 2016;10(3):BD01-2doi: 10.7860/JCDR/2016/16352.7409.
Kumar, B. V., Choccalingam, C., & Samuel, P. (2016). Incidental Identification of Possible Delta-Beta Thalassemia Trait in a Family: A Rare Cause of Elevated Hb F. Journal of clinical and diagnostic research : JCDR, 10(3), BD01-2. https://doi.org/10.7860/JCDR/2016/16352.7409
Kumar, B Vinodh, et al. "Incidental Identification of Possible Delta-Beta Thalassemia Trait in a Family: A Rare Cause of Elevated Hb F." Journal of clinical and diagnostic research : JCDR vol. 10,3 (2016): BD01-2. doi: https://doi.org/10.7860/JCDR/2016/16352.7409
Kumar BV, Choccalingam C, Samuel P. Incidental Identification of Possible Delta-Beta Thalassemia Trait in a Family: A Rare Cause of Elevated Hb F. J Clin Diagn Res. 2016 Mar;10(3):BD01-2. doi: 10.7860/JCDR/2016/16352.7409. Epub 2016 Mar 01. PMID: 27134860; PMCID: PMC4843246.
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J Clin Diagn Res. 2016 Mar;10(3):BD01-2. doi: 10.7860/JCDR/2016/16352.7409. Epub 2016 Mar 01.

Incidental Identification of Possible Delta-Beta Thalassemia Trait in a Family: A Rare Cause of Elevated Hb F.

Journal of clinical and diagnostic research : JCDR

B Vinodh Kumar, Chidambharam Choccalingam, Premila Samuel

Affiliations

  1. Consultant Biochemist, Department of Biochemistry, SRL Limited , Chennai, India .
  2. Consultant Pathologist, Department of Pathology, SRL Limited , Chennai, India .
  3. Lab Head & Consultant Pathologist, Department of Pathology, SRL Limited , Chennai, India .

PMID: 27134860 PMCID: PMC4843246 DOI: 10.7860/JCDR/2016/16352.7409

Abstract

Delta-Beta thalassaemia is an unusual variant of thalassaemia with elevated level of foetal haemoglobin (HbF). The clinical presentation of delta-beta thalassaemia is mild in both heterozygote and homozygote cases. We hereby describe a rare cause of elevated Hb F in a father and his two daughters. A 52-year-old diabetic male patient, on evaluation of chromatogram of cation exchange HPLC for HbA1c, we incidentally identified elevated Hb F of approximately 20%. Haematological investigation of the patient revealed decreased haemoglobin, normal RBC, leucocyte and platelet count, decreased MCV and MCH. Red cell morphology showed predominantly normocytic normochromic cells with mild anisopoikilocytosis, few microcytes and hypochromic cells seen. His liver function test was normal. Haemoglobin variant analysis revealed decreased Hb A (79.4%), normal Hb A2 (2%) and increased Hb F (19.75%). A possible diagnosis of heterozygous δ β-thalassaemia was considered. Since most laboratories perform HbA1c by cation exchange HPLC method, a careful evaluation of the chromatogram yields useful information. In our case, the elevated Hb F in a father and further careful evaluation of clinical and haematological parameters in the family members made us to possibly think of rare disorders like heterozygous Delta-Beta thalassaemia in the family and provide valuable genetic counseling.

Keywords: Foetal haemoglobin; Genetic counseling; Haemoglobin variant analysis

References

  1. Cell. 1976 Sep;9(1):71-80 - PubMed
  2. Am J Dis Child. 1963 Mar;105:234-42 - PubMed
  3. Blood. 1970 Feb;35(2):158-65 - PubMed
  4. Blood. 1963 Mar;21:261-81 - PubMed
  5. J Med Genet. 1982 Jun;19(3):184-92 - PubMed
  6. Genet Mol Res. 2011 Dec 21;10(4):3213-9 - PubMed
  7. Blood. 1966 Jul;28(1):54-69 - PubMed

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