Co-inheritance of Alpha & Beta-Thalassemia: Case Report of a Bangladeshi Individual

Maruf Al Hasan(1), Tamanna Nourin(2)
(1) Rajshahi Medical College, Rajshahi, Bangladesh
(2) Rajshahi Medical College, Rajshahi, Bangladesh

Abstract

The double heterozygous state of ? and ? thalassemia may alter the haematological indices and cause diagnostic challenges. Compound heterozygosity plays a vital role in modifying treatment plans and modes of genetic counselling. The case of this study is a co-inheritance of ? and ? thalassemia that is unusually reported in the context of Bangladesh due to the lack of a national screening program, documentation, and diagnosis facility. A 26-year-old female patient attended a private hospital with complaints of weakness and lethargy.  She stated having received multiple blood transfusions over the previous three years. On general physical examination she was found anaemic coincided with the haematological study report. Her haemoglobin level was 7.40 g/dL with haematocrit 24.20%, mean corpuscular volume 57.6 fL, mean corpuscular haemoglobin 17.6 pg, and mean corpuscular haemoglobin concentration 30.6 g/dL. Serum ferritin level was 1210.94 ng/mL indicating an overload of iron. Hb electrophoresis revealed haemoglobin A2 5.3% which was more than the reference range suggestive of beta thalassemia minor. The genetic test confirmed heterozygosis for SEA and ?4.2 compound along with heterozygosis in cd15 (TGG > TAG) indicative of co-inheritance of alpha and beta-thalassemia. Necessary management was given along with diet advice. Genetic counselling was strongly recommended with frequent follow-ups of Hb and iron profile. It was suggested to the patient for Haemoglobin electrophoresis of all the family members and relatives as it is a hereditary disease.

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References

Modell B, Darlison M. Global epidemiology of haemoglobin disorders and derived service indicators. Bull World Health Organ. 2008; 86:480–7. doi: 10.2471/BLT.06.036673.

Chowdhury MA, Sultana R, Das D. Thalassemia in Asia 2021 overview of thalassemia and hemoglobinopathies in Bangladesh. Hemoglobin. 2022 Jan 2;46(1):7-9. DOI: 10.1080/03630269.2021.2008957.

Fucharoen S, Weatherall DJ, Steinberg MH, Forget BG, Higgs DR, Weatherall DJ. Hemoglobin E Disorders. In: Disorders of Hemoglobin: Genetics, Pathophysiology, and Clinical Management. 2nd ed. Cambridge: Cambridge University Press; 2009:417-434. doi:10.1017/CBO9780511596582.025.

Thein SL. Pathophysiology of β thalassemia-a guide to molecular therapies. Haematology Am Soc Hematol Educ Program 2005:31–37.

Baysal E. HPFH and db-thalassemia conditions. Haemoglobin. 1993;17:569–589. doi: https://doi.org/10.3109/03630269309043499

Law HY, Chee MK, Tan GP, Ng IS. The simultaneous presence of alpha- and beta-thalassaemia alleles: a pitfall of thalassaemia screening. Community Genet. 2003;6:14–21. doi: 10.1159/000069539.

Pandey H, Ranjan R, Singh K, Sharma A, Kishor K, Seth T, Saxena R. Contrasting co-inheritance of alpha and beta mutations in delta beta thalassemia and hereditary persistence of fetal haemoglobin: a study from India. Hematology. 2018 Oct 21;23(9):692-6. DOI: 10.1080/10245332.2018.1458934

Kanavakis E, Wainscoat JS, Wood WG, Weatherall DJ, Cao A, Furbetta M, Galanello R, Georgiou D, Sophocleous T. The interaction of α thalassaemia with heterozygous β thalassaemia. British journal of haematology. 1982 Nov;52(3):465-73.

Melis MA, Pirastu M, Galanello R, Furbetta M, Tuveri T, Cao A. Phenotypic effect of heterozygous α and β0-thalassemia interaction. Blood 1983; 62: 226–229.

Rosatelli C, Falchi AM, Scalas MT, Tuveri T, Furbetta M, Cao A. Haematological phenotype of the double heterozygous state for α and β thalassemia. Haemoglobin 1984; 8: 25–35.

Rahman MM, Khan L. Co-inheritance of α- and β-thalassemia in a Bangladeshi family. Bangabandhu Sheikh Mujib Medical University Journal. 2017 Jun 9;10(2):123-5. Rahman, Mizanur & Khan, Lutfunnahar. (2017). Co-inheritance α-thalassemia and β-thalassemia in a Bangladeshi family. Bangabandhu Sheikh Mujib Medical University Journal. 10. 123. 10.3329/bsmmuj.v10i2.32708.

Li J, Xie X-M, Liao C, Li D-Z. Co-inheritance of α-thalassaemia and β-thalassaemia in a prenatal screening population in mainland China. Journal of Medical Screening. 2014;21(4):167-171. doi:10.1177/0969141314548203

Chaudhry AF, Malik Z, Shegos CJ. Rare co-inherited alpha-thalassemia minor and beta-thalassemia minor with heterozygous H63D mutation mistaken as iron deficiency anemia: a case report. AME Case Reports. 2022;6. https://doi.org/10.21037/acr-21-40

Noor FA, Sultana N, Bhuyan GS, Islam MT, Hossain M, Sarker SK, Islam K, Khan WA, Rahman M, Qadri SK, Shekhar HU. Nationwide carrier detection and molecular characterization of β-thalassemia and haemoglobin E variants in Bangladeshi population. Orphanet journal of rare diseases. 2020 Dec;15(1):1-2. https://doi.org/10.1186/s13023-020-1294-z

Hossain MS, Raheem E, Sultana TA, Ferdous S, Nahar N, Islam S, Arifuzzaman M, Razzaque MA, Alam R, Aziz S. Thalassemias in South Asia: clinical lessons learnt from Bangladesh. Orphanet J Rare Dis. 2017;12(1):93. doi: 10.1186/s13023-017-0643-z.

De Sanctis V, Kattamis C, Canatan D, Soliman AT, Elsedfy H, Karimi M, Daar S, Wali Y, Yassin M, Soliman N. β-thalassemia distribution in the old world: an ancient disease seen from a historical standpoint. Mediterr J Hematol Infect Dis. 2017;9(1):e2017018. doi: 10.4084/mjhid.2017.018.

Cao A, Kan YW. The prevention of thalassemia. Cold Spring Harbor perspectives in medicine. 2013;3(2):a011775. doi: 10.1101/cshperspect.a011775.

Shahid S, Nadeem M, Zahid D, Hassan J, Ansari S, Shamsi T. Alpha thalassemia deletions found in suspected cases of beta thalassemia major in Pakistani population. Pak J Med Sci. 2017;33:411–6. doi: 10.12669/pjms.332.11834.

Guvenc B, Canataroglu A, Unsal C, et al. β-Globin chain abnormalities with coexisting α-thalassemia mutations. Arch Med Sci. 2012;8:644–9. doi: 10.5114/aoms.2012.28723.

Authors

Maruf Al Hasan
marufhasan4954@gmail.com (Primary Contact)
Tamanna Nourin
Author Biographies

Maruf Al Hasan, Rajshahi Medical College, Rajshahi

Registrar, Department of Haematology, Rajshahi Medical College Hospital, Bangladesh

Tamanna Nourin, Rajshahi Medical College, Rajshahi

Assistant Registrar, Department of Haematology, Rajshahi Medical College, Rajshahi

1.
Al Hasan M, Nourin T. Co-inheritance of Alpha & Beta-Thalassemia: Case Report of a Bangladeshi Individual. Haematol J Bangladesh [Internet]. 2024 Feb. 20 [cited 2024 Apr. 17];8(1):32-8. Available from: https://journal.hematologybd.org/index.php/haematoljbd/article/view/117

Article Details

How to Cite

1.
Al Hasan M, Nourin T. Co-inheritance of Alpha & Beta-Thalassemia: Case Report of a Bangladeshi Individual. Haematol J Bangladesh [Internet]. 2024 Feb. 20 [cited 2024 Apr. 17];8(1):32-8. Available from: https://journal.hematologybd.org/index.php/haematoljbd/article/view/117