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Compound heterozygous alpha-thalassemia 3.7 kb deletion and hemoglobin adana: a case report

  • Nyoman Suci Widyastiti ,
  • Edward Kurnia Setiawan Limijadi ,
  • Dwi Retnoningrum ,
  • Ita Margaretha Nainggolan ,

Abstract

Introduction: A point mutation of codon 59 (GGC ➞ GAC) of the α2-globin gene, known as haemoglobin (Hb) Adana, contributes to various kinds of α-thalassemia syndrome. This case report described a patient who had heterozygous alpha-thalassemia 3.7 kb deletion and hemoglobin adana.

Case report: We report a case of a 17-year-old boy who was referred for the investigation of persistent anemia. His peripheral blood film was consistent with mild hemolytic anemia, without HbH inclusions. Normal HbA2 levels without HbH and HbBart peaks. Both his parents had normal Hb levels, but his mother presented with mild microcytosis. DNA analysis revealed a compound heterozygote for one gene deletion (α-3.7) thalassemia and CD59 (GGC→GAC) mutation in the α2-globin gene. The mother was heterozygous for Hb Adana, and the father was heterozygous for α-3.7.

Conclusion: This case report emphasizes the need to consider Hb Adana detection in the absence of HbH inclusions and normal Hb analysis. Therefore, DNA analysis is strongly suggested to confirm the diagnosis and improve the management of thalassemia patients.

References

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How to Cite

Widyastiti, N. S., Limijadi, E. K. S., Retnoningrum, D., & Nainggolan, I. M. (2021). Compound heterozygous alpha-thalassemia 3.7 kb deletion and hemoglobin adana: a case report. Bali Medical Journal, 10(3), 1129–1132. https://doi.org/10.15562/bmj.v10i3.2629

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Nyoman Suci Widyastiti
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Edward Kurnia Setiawan Limijadi
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Dwi Retnoningrum
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Ita Margaretha Nainggolan
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