OBJECTIVES To analyze the frequency of β(S)-globin haplotypes and alpha-thalassemia, and their influence on clinical manifestations and the hematological profile of children with sickle cell anemia. METHOD The frequency of β(S)-globin haplotypes and alpha-thalassemia and any association with clinical and laboratorial manifestations were determined in 117 sickle cell anemia children aged 3-71 ...

BACKGROUND In the past two decades, a large-scale survey of hemoglobinopathies and thalassemia was carried out in mainland China, involving nearly one million people in 28 provinces. The incidences of hemoglobin (Hb) variants, alpha-thalassemia and beta-thalassemia were 0.33%, 2.64% and 0.66%, respectively. The chemical structural analysis identified 67 Hb variants. Among them, 20 are new varia...

BACKGROUND AND OBJECTIVE Current application of molecular biology techniques to the study of the DNA of globin genes has confirmed the existence of silent alpha and beta thalassemias; which had already been reported on the basis of red blood cell parameters and family studies. The present work was aimed at analyzing all the aspects of the phenotype of the most common varieties of silent thalass...

The alpha globin genotype of a total of 282 Indians from Orissa state has been analyzed. The overall alpha thalassemia gene frequency is 0.29, most frequently caused by the -alpha 3.7 and -alpha 4.2 deletions. In one family a novel -alpha 3.5 deletion removing the alpha 1 globin gene with some of its flanking sequences has been found, suggesting further sequence homology of the alpha globin gen...

BACKGROUND The retinopathy is an uncommon complication in individuals with sickle cell trait except for the cases of sickle cell trait associated with systemic arterial hypertension, diabetes mellitus, syphilis, tuberculosis and sarcoidosis. CASE PRESENTATION A retinopathy in a 16 year-old child with no history of consanguinity in the parents revealed a sickle S trait associated to heterozygo...

Thalassemias are a group of inherited disorders that are characterized by decreased production of the alpha or beta globin chains. The amount of the produced normal hemoglobin within the red blood cells correlates with the severity of the symptoms. Fetuses with alpha-thalassemia major usually die. Children with beta-thalassemia major are usually dependent on repeated blood transfusions. Splenec...

We report of an Iranian family with history of a rare haemoglobin variant, Haemoglobin J associated with alpha thalassemia, discovered while performing premarital thalassemia screening. In the present study we report the first case of haemoglobin J-Toronto [alpha 5 (A3) Ala > Asp] on -globin gene, found in a 16-year-old female from Mazandaran Province, North of Iran. Further investigation chara...

Sickle cell anemia (SCA) is a disease characterized by abnormal red blood rheology. Because of their effects on HbS polymerization and deformability, alpha-thalassemia the residual HbF level are known genetic modifiers disease. The aim our study was to determine if number quantitative trait loci (QTL) would also favor specific sub-phenotype SCA as it case for alpha-thalassemia. Our results conf...

Objectives. Check with hematological data that the diagnosis and clinical grade of β-thalassemia intermedia can be established when a triplication genes alpha (αααanti 3.7) heterozygous are coherent. Methods. Retrospective study in which 73 patients Caucasian origin participated, who simultaneously showed tripling or quadrupling α β-thalassemia. Screening for most frequent α-thalassemia mutatio...