Each year, an estimated 300,000 infants are born with either of the two most common hemoglobinopathies: the sickle cell diseases or the thalassemias. These inherited diseases are the most prevalent monogenetic disorders worldwide. Sickle cell disease makes up 85% of the total infants, and thalassemias the remaining 15%. It is increasingly apparent that sickle cell disease and thalassemia have b...

conclusions ultimately, we can conclude that the hemoglobin level at the time of admission and before delivery, the type of disease, gestational age, and transfusion could be effective factors of patient mortality. results the mean maternal age was 27.60 ± 6.37 years. the hemoglobin level at hospital admission was 8.9 ± 1.61 g/dl for the survivors and 7.73 ± 1.19 g/dl for the deceased patients ...

Sickle cell disease affects more than 100,000 individuals in the United States, among whom disease severity varies considerably. One factor that influences disease severity is the sickle cell disease genotype. For this reason, clinical prevention and treatment guidelines tend to differentiate between genotypes. However, previous research suggests caution when using a claimsbased determination o...

BACKGROUND Pantothenate kinase-associated neurodegeneration (PKAN), sickle cell anemia, and thalassemia are autosomal recessive disorders that can cause iron deposition in tissues during childhood. PKAN is characterized by accumulation of iron in the basal ganglia causing progressive extrapyramidal manifestations. Thalassemia and sickle cell disease can cause iron overload and deposition in tis...

Background: Approximately 180 mutations have been described in β-thalassemia worldwide with specific spectrum in each ethnic population. This study determines the spectrum and the frequency of β-thalassemia mutations in patients with β-thalassemia trait and sickle cell-β-thalassemia. Methods: Fifteen compound heterozygous sickle cell thalassemia (SCT) and 23 β-thalassemia trait patients were st...

In the sickle cell syndromes, Hb A2 measurements aid in the differential diagnosis of sickle cell anemia from sickle-beta-thalassemia. The purpose of this study is to assess the Hb A2 levels in samples containing sickle hemoglobin (Hb S) by the use of an automated high performance liquid chromatography system (HPLC-Variant beta-thalassemia Short Program). The blood samples analyzed were from in...

Background: Until now, trimodal distribution of HbS has been seen by six different studies in the world when associated with alpha-thalassemia with confirmation by corresponding alpha-genotyping studies. The RBC indices reduce as alpha-globin genes reduce in sickle cell trait (SCT) patients, which decreases the extent of intra-vascular sickling and thus betters the clinical cou...

In Yemen, the prevalence of sickle cell trait and β-thalassemia trait are high. The aim of this premarital program is to identify sickle cell and thalassemia carrier couples in Yemen before completing marriages proposal, in order to prevent affected birth. This can be achieved by applying a low-cost premarital screening program using simple blood tests compatible with the limited health resourc...

Thalassemia and Sickle Cell Disease (SCD) both are genetic blood disorders occurring by destruction in red blood cells (RBCs). Every year about 300,000 infants worldwide are born with Thalassemia syndrome (30 per cents) and sickle cell anaemia (70 per cents. Globally, the percentage of carriers of Thalassemia is greater than that of carriers of SCA, but because of the high frequency of the sick...

Functional messenger RNA for human hemoglobin synthesis was prepared from reticulocyte lysates of patients with homozygous beta thalassemia and sickle cell anemia. The messenger RNA stimulated the synthesis of human globin chains by a cell-free system derived from Krebs mouse ascites cells. In the presence of beta thalassemia messenger RNA, the system synthesized much less beta chain than alpha...