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Sickle cell-β-thalassemia [Hb S/βthalassemia] is a rare type of hemoglobinopathy. The clinical characteristics of Hb S/βthalassemia are highly variable from a completely asymptomatic state to a severe disorder like homozygous sickle cell disease. In India IVS I-5 (G→C) is the most common β-thalassemia allele. In this study we presented a case of compound heterozygous Hb S/βthalassemia in a 14-year-old female with complaints of anemia with weakness, joint pain and splenomegaly. The patient and her parents were diagnosed by HPLC and for detection of mutational pattern of β-thalassemia; ARMS-PCR and DNA sequencing were performed. The HPLC report suggested that the patient have Hb S/βthalassemia and molecular diagnosis confirmed that the patient inherited IVS I-5 (G→C) βthalassemia mutation. CASe RepoRT A 14-year-old female with complaints of anemia with weakness, joint pain and stomach pain presented in the Outpatient Department of Pediatrics. After taking informed consent systemic examination of the patient was done and the patient’s spleen was found to be enlarged. Blood samples of the patient and her parents were collected in EDTA vials after obtaining informed consent. Hematological data of the blood samples were determined on an automated blood cell counter (SYSMEX XS-800i, Japan) and the hemoglobin typing was performed by high performance liquid chromatography (HPLC) using the BIORAD D10 Hemoglobin Testing System. The hematological analysis showed that the patient was anemic [Table/Fig-1]. The hemoglobin typing results [Table/Fig-2] revealed that the patient was compound heterozygous for Hb S/βthalassemia, the father had βthalassemia trait and the mother had sickle cell trait. Molecular analysis was done to identify βthalassemia mutation pattern associated with the patient. Genomic DNA was extracted by using QIAamp® DNA Blood Mini Kit (QIAGEN, Germany) for doing amplification refractory mutation system polymerase chain reaction (ARMS-PCR). ARMS-PCR was done following standard protocol [1]. Amplification was carried out in a 50μl reaction mixture containing 10x PCR buffer, 200μM dNTPs and 1.5mM MgCl2. All the required primers, 2μl of DNA sample, 0.5U of GoTaq® Flexi DNA Polymerase and nuclease free water were added to the reaction mixture. Amplification was carried out in an ArktikTM Thermal Cycler (Thermo Scientific, USA) as following sequence: 94°C for 5 minutes followed by 30 cycles of 94°C for 45 second, 65°C for 45 seconds and 72°C for 1.5 minutes, with a final extension at 72°C for 7 minutes. Then 15μl aliquot of the PCR product was separated on a 1.5% agarose gel in 1x Tris-borat-EDTA (TBE) buffer. The gel was stained with ethidium bromide and visualized under gel documentation system for the result. ARMS-PCR revealed that the βthalassemia mutation pattern inherited by the patient was IVS I-5 (G→C) mutation [Table/Fig-3]. The same mutation pattern was also found in the patient’s father [Table/Fig-3]. Finally the PCR products were sequenced by automated DNA sequencer based on Sanger method to confirm the IVS I-5 (G→C) mutation [Table/Fig-4]. G en et ic s S ec tio n

Compound Heterozygous Sickle Cell-β-Thalassemia: A Case Report from Upper Assam, India