Özet:

Background: The prevalence of  Hb S/β Thalassemia has not been widely reported, and until now, there is a lack of statistical data on the prevalence of the disease in Indonesia. In 1974, cases of β thalassemia with Hb S were found in one family in Jakarta. The aim of this study was to describe the cytogenetic mutation in a family with Hb S/β thalassemia in North Sumatera. Methods: This was a descriptive study with a cross-sectional design conducted in one family of HbS patients with thalassemia trait, with a total of five samples. Complete blood count, hemoglobin electrophoresis examination, peripheral blood smear, PCR, and amplicon were performed to describe the hematology and cytogenetic profile of samples. Data were analyzed descriptively. Results : The father (64 years old) suffered from HbS (HbA = 58.3%, HbS = 38.3%, HbA2 = 2.8%) with heterozygote HbS mutation type. The mother (36 years old) suffered from β-thalassemia trait (HbA = 93.8, HbF = 1.2%, HbA2 = 5%) with β-thalassemia heterozygote IVS1-nt5 mutation type. The first child (male, 18 years old) suffered from HbS/β thalassemia (HbA = 25.9%, HbF = 22.4%, HbS = 48.2%, HbF = HbA2 = 3.5%), the second child was normal (HbA = 97.4%, HbA2 = 2.6%) and the third child (female, 10 years old ) suffered from HbS β-thalassemia (HbA = 3.3%, HbF = 25.5%, HbS = 67.6%, HbA2 = 3.6%). The first and third child had β-thalassemia with double heterozygote HbS and IVS1-nt5 mutation type. Conclusion: Population migration between nations followed by marriage could lead to cytogenetic mutations and cause sickle-cell beta-thalassemia. The finding of double heterozygous HbS mutation and beta thalassemia need to be explored further about the patient’s fathers family.

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