Abstract
BackgroundHbS/b cases having clinical, hematologic and electrophoretic similarities cannot be sufficiently distinguished from sickle cell anemia cases and are misdiagnosed as sickle cell anemia. This study will investigate the congruence between the HPLC thalassemia scanning tests and the laboratory findings compared to the DNA sequence analysis results of the patients diagnosed with SCA between 2016 and 2020. This study also aims to indicate the current status to accurately diagnose sickle cell anemia and HbS/b in the light of hematologic, electrophoretic and molecular studies.MethodsFourteen patients who were diagnosed with SCA in hospitals at different cities in Turkey and followed by the Thalassemia Diagnosis, Treatment and Research Center, Muğla Sıtkı Koçman University were included in this retrospective study. The socio-demographic characteristics, hemogram, hemoglobin variant analysis results and DNA chain analysis results of the patients were taken from the database of the centre and then examined. The informed consents were taken from the patients. The patients were administered a survey containing questions about transfusion history and diagnostic awareness. The Beta-Thalassemia mutations were analysed using a DNA sequencer (Dade Behring, Germany) based on the Sanger method.ResultsAccording to the DNA sequence analysis, the results of these patients diagnosed with SCA in hospitals in different cities of Turkey were the following: of 14 patients, 8 had HbS/b0, and HbS/b+ and one had HbS carrier, and one had Hb-O, and three had SCA. The patient with HbS carrier status also contains three additional mutations, all of which are heterozygous. We discovered that although two of three mutations, which are c.315+16G>C and c.316-185C>T, are previously reported as benign, at least one of the two mentioned mutations, when combined with HbS, causes transfusion-dependent HbS/b.ConclusionsBriefly, HbSS and HbS/b thalassemia genotypes cannot be definitely characterized by electrophoretic and hematologic data, resulting in misdiagnosis. c.315+16G>C and c.316-185C>T are previously reported as benign; at least one of the two mentioned mutations, when combined with HbS, causes transfusion-dependent HbS/b. In undeveloped or some developing countries, molecular diagnosis methods and genetic analyses cannot be used. If mutation analyses could be performed, then such differential diagnosis errors would reduce. However, if mutation analysis cannot be performed, other methods such as HPLC, capillary electrophoresis absolutely be sought to have insight into the parental carriage status.
Highlights
Sickle cell diseases (SCD) affect millions of people worldwide
It is estimated that there are more than 300 million people who have (HbSS, SC, SD, SE, S/b, SO-Arab) or carry sickle cell disease, which is expected to be increased gradually [1, 2]. 300,000–400,000 babies with sickle cell anemia (SCA) are born every year around the world, and tens of thousands of people have the most severe clinical phenotype of the disease – the homozygous HbSS form [3, 4]
According to the DNA sequence analysis, the results of these patients diagnosed with SCA in hospitals in different cities of Turkey were the following: of 14 patients, 8 had HbS/b0 and HbS/b+ and one had HbS carrier, and one had Hb-O, and three had SCA
Summary
Sickle cell diseases (SCD) affect millions of people worldwide. It is estimated that there are more than 300 million people who have (HbSS, SC, SD, SE, S/b, SO-Arab) or carry sickle cell disease, which is expected to be increased gradually [1, 2]. 300,000–400,000 babies with SCA are born every year around the world, and tens of thousands of people have the most severe clinical phenotype of the disease – the homozygous HbSS form [3, 4]. 300,000–400,000 babies with SCA are born every year around the world, and tens of thousands of people have the most severe clinical phenotype of the disease – the homozygous HbSS form [3, 4]. It can be seen everywhere in the world, but it has an epidemic course, especially in Sub-Saharan Africa, Saudi Arabia, India, Central and South America, Middle East countries and Mediterranean countries [5, 6]. The genotype is a key determinant of the clinical severity of SCD [4, 10]
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