Thalassemia is a Mendelian autosomal recessive heritable blood disorder it's a group of genetically determined microcytic, hypochromic anemia's resulting from decrease in synthesis of one or more globin chains in the hemoglobin molecule. The most common types are alpha and beta thalassemia according to which globin chain is reduced. Thalassemia was first described by [1] when he observed the disorder in patients of Mediterranean ancestry, and called Cooley's anemia, In 1936 Whipple and Bradford in describing the pathological changes of the condition for the first time coined the name thalassemia, which means "sea in the blood "which is a reference to the fact that thalassemia is prevalent in the Mediterranean Sea area [2]. Thalassemia was historically found in warmer areas of the world and became prevalent in those areas because they coincide with the areas where malaria is also prevalent, and thalassemia provides some protection against malaria, resulting in more thalassemia's carriers surviving malaria epidemics than non-thalassemia's, thereby inflating the percentage of those populations carrying the thalassemia genes [1,3]. The genetic defect involved in beta thalassemia is usually a missense or nonsense mutation in the beta-globin gene, although occasional defects due to gene deletions of the beta-globin gene and surrounding regions have also been reported. The severity of the damage depends on the nature of the mutation. Mutations in the HBB gene cause beta thalassemia. The HBB gene provides instructions for making a protein called betaglobin. Beta-globin is a component (subunit) of hemoglobin. Beta thalassemia mutations are characterized according to the extent of defect information of beta-globin chains, some mutations in the
Background and Objective: Along with erythrocytes, the Kidd glycoprotein exists in the kidney, where it enables the kidney to accumulate an elevated urea concentration, which is required for the kidney to produce concentrated urine. The primary objective of this research is to look for Kidd genes (Jk) in patients with end-stage chronic kidney disease. Materials and Methods: This is a prospective cross-sectional study of 200 patients with chronic renal failure in Khartoum in the period from June 2018 to November 2021. The patients were being monitored in clinic and the majority of them were nearing the end of their chronic kidney disease (ESCKD). Results: When the positive and negative Jk Kidd antigens in ESCKD patients were compared, it was discovered that there were significant differences in urea (P-value 0.001), creatinine (P-value 0.001) and uric acid (P-value 0.04), but no difference in sodium or potassium. Conclusion:Kidd blood group influences serum urea, creatinine and uric acid levels significantly. This effect was observed in different Kidd blood group antigens, including Jka+, Jkb+ and Jka+b+. This means that the Jk group is important in estimating the severity of ESCKD; this discovery could be useful in determining dialysis time and treatment response.
Background: Iron deficiency anemia (IDA) and beta-thalassemia trait (BTT) are the most common types of microcytic hypochromic anemias. The aim of this study was to evaluate the reliability of different RBC indices for discrimination between IDA and BTT in Sudanese patients. Methods and Results: This cross-sectional laboratory-based study was conducted among 200 patients (100 patients suffering from BTT and 100 from IDA) who attended the public health hospitals of Khartoum State (Sudan), from Jan 2021 to Feb 2022. The diagnosis of BTT was based on CBC and hemoglobin electrophoresis, and was confirmed by PCR. The diagnosis of IDA was based on complete blood count, reduced serum iron levels, and ferritin levels. Pregnant women, patients who had received a blood transfusion within three months of the study, and patients with thalassemia coexisting with IDA or other hemoglobinopathies were excluded from the study. A series of red blood cell indices were analyzed to differentiate IDA and BTT. The sensitivity, specificity, positive predictive value, negative predictive value, and Youden index (J) were calculated for each index. In BTT and IDA patients, mean values of Hb, hematocrit, and mean corpuscular volume were 10.9g/dL, 33.96%, 59.11fL, and 8.5g/dL, 26%, 68fL, respectively. All RBC indices were decreased in BTT and IDA. Mean RBC count was increased in BTT while showing normal values in IDA. In BTT patients, hemoglobin electrophoresis showed high HbA2 (6.4%) and HbF (1.95%) but a decreased HbA (78.2%). Conclusion: The best discrimination index according to J was Mentzer index (0.85), followed by Sidrah index (0.83), Ehsani index (0.81), RBC count (0.80), RDWI (0.79), Green and King index (0.76), MDHL (o.76), Srivastava index (o.76), and England and Fraser index (0.7). The lowest J was presented in Ricerca index (0.45), Shine and Lal index (0.01), and MCHD (0).
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