Detection of Sickle Cell Disease in Kurdistan, Iraq

A genetic mutation in the beta-globin gene causes the common illness known as Sickle Cell Disease (SCD). "Sickle Cell Disease (SCD) is caused by a genetic mutation in the beta-globin gene, leading to the synthesis of hemoglobin S." The mutation can manifest in either homozygous or heterozygous form, potentially in combination with another mutation in the hemoglobin gene. Various approaches were created to accurately identify Sickle Cell Disease with high sensitivity and specificity. The present study aimed to determine the frequency of various genotypes of Sickle Cell Disease (SCD) in Kurdistan, Iraq, using hematological testing, hemoglobin isolation, and genetic testing. One hundred patients were examined individually. The Duhok-Jin center in Kurdistan, Iraq, provided the data in ۲۰۱۹ and ۲۰۲۰. The analysis was conducted in ۲۰۲۰. The procedures used for screening include a complete blood count, while confirmatory tests involve hemoglobin separation and genetic tests. The cohort of ۱۰۰ participants in the study had a mean age of ۱۵.۸. ۶۱% of the patients were diagnosed with sickle cell anemia, whereas the remaining ۳۹% were identified with S/β-thalassemia. "In individuals with sickle cell anemia, the concentrations of HbS, HbF, and HbA۲ were measured as ۶۵.۰ ± ۱۵.۰۴, ۱۹.۵۲ ± ۱۷.۳, and ۲.۶۵ ± ۰.۸, respectively. In individuals with S/β-thalassemia, the concentrations were ۶۳.۰۳ ± ۱۳.۴۴, ۱۹.۹۵ ± ۱۲.۰, and ۴.۶۳ ± ۰.۹, respectively." This investigation demonstrates that combining hematologic tests and HPLC with a confirmatory test, such as DNA analysis, can lead to an accurate diagnosis of Sickle Cell Disease.

کلیدواژه ها:

sickle cell anemia ، HPLC ، PCR-RFLP