Add to ORKGRecent developements of molecular biology and genetic of thalassemia syndromes are discussed with special regard to Sardinian situation. In the island heterozygous α and β thalassernias are present with incidences of 13,5 and 12,5% respectively. β+ and δβ thalassemias together with several types of HPFH, are also present. Screening programs at level of couples are suggested for the prevention of β thalassemic homozygosity
We describe the clinical and molecular characteristics of two unrelated Brazilian families with an a...
SUMMARY In this study the prevalence of the different f-thalassaemia types in southern Sardinia was ...
Summary Fifty‐one subjects originating from Southern Italy and affected by Cooley's anaemia have bee...
Beta thalassaemia represents one of the most common autosomal recessive disorders worldwide. High pr...
La beta thalassemia rappresenta una delle più comuni patologie autosomiche recessive nel mondo. I Pa...
The β-thalassaemias are a heterogeneous group of inherited disorders of haemoglobin synthesis, all c...
Expression of fetal globin is silenced normally in adult life; however, determinants linked and/or u...
β (HBB) gene, resulting in absence (β0) or deficiency (β+) of β globin chain synthesis. This genetic...
α-Thalassemia commonly results from deletions or point mutations in one or both α-globin genes locat...
Aim: 1)Confirm and detail the homogeneity of the Sardinian population at interregional level based o...
The beta thalassemia are frequent genetic disorders and sufferers may have increased levels of hemog...
The incidence of β-thalassemia in Sardinia is high and β-39 is the most common mutation. The prevent...
Introduction Many genetic factors influence Beta Thalassemia severity, recessive autosomal disorder...
The presence of hemoglobin S (HbS) in blood is responsible for sickle cell disease when its concentr...
Cancer may be regarded as genetic disease because of presence of gene mutation and/or anomalies as c...
We describe the clinical and molecular characteristics of two unrelated Brazilian families with an a...
SUMMARY In this study the prevalence of the different f-thalassaemia types in southern Sardinia was ...
Summary Fifty‐one subjects originating from Southern Italy and affected by Cooley's anaemia have bee...
Beta thalassaemia represents one of the most common autosomal recessive disorders worldwide. High pr...
La beta thalassemia rappresenta una delle più comuni patologie autosomiche recessive nel mondo. I Pa...
The β-thalassaemias are a heterogeneous group of inherited disorders of haemoglobin synthesis, all c...
Expression of fetal globin is silenced normally in adult life; however, determinants linked and/or u...
β (HBB) gene, resulting in absence (β0) or deficiency (β+) of β globin chain synthesis. This genetic...
α-Thalassemia commonly results from deletions or point mutations in one or both α-globin genes locat...
Aim: 1)Confirm and detail the homogeneity of the Sardinian population at interregional level based o...
The beta thalassemia are frequent genetic disorders and sufferers may have increased levels of hemog...
The incidence of β-thalassemia in Sardinia is high and β-39 is the most common mutation. The prevent...
Introduction Many genetic factors influence Beta Thalassemia severity, recessive autosomal disorder...
The presence of hemoglobin S (HbS) in blood is responsible for sickle cell disease when its concentr...
Cancer may be regarded as genetic disease because of presence of gene mutation and/or anomalies as c...
We describe the clinical and molecular characteristics of two unrelated Brazilian families with an a...
SUMMARY In this study the prevalence of the different f-thalassaemia types in southern Sardinia was ...
Summary Fifty‐one subjects originating from Southern Italy and affected by Cooley's anaemia have bee...