Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A survey of hemoglobinopathies in Northern Sardinia allowed the identification of two subjects heterozygous for a new type of G gamma hereditary persistence of fetal hemoglobin (HPFH). The G gamma-globin gene from the HPFH chromosome shows the presence of a T----C substitution 175 nucleotides upstream of the CAP site, adding a new example of single-point mutations occurring in the promoter region of the gamma-globin genes and linked to HPFH phenotypes. In this case the mutation affects the 3' end nucleotide of a conserved octamer sequence known to be present in other regulatory elements of several genes.
 ...
PMID:Sardinian G gamma-HPFH: a T----C substitution in a conserved "octamer" sequence in the G gamma-globin promoter. 244 27

Beta-thalassemia is the most-common genetic disorder of hemoglobin synthesis in Malaysia, and about 4.5% of the population are heterozygous carriers of the disorder. Prenatal diagnosis was performed for 96 couples using the Amplification Refractory Mutation System and Gap-Polymerase Chain Reaction. We identified 17 beta-globin defects-initiation codon for translation (T-G), -29 (A-G), -28 (A-G), CAP +1 (A-C), CD 8/9 (+G), CD 15 (G-A), CD 17 (A-T), CD 19 (A-G), Hb E (G-A), IVS1-1 (G-T), IVS1-5 (G-C), CD 41/42 (-CTTT), CD 71-72 (+A), IVS2-654 (CT), poly A(A-G), 100-kb Ggamma(Agammadeltabeta) degrees and 45-kb Filipino deletions. The 192 beta-alleles studied comprised Chinese (151 patients), Malay (21), Orang Asli from East Malaysia (15), Filipino (1), Indian (1), Indonesian Chinese (2), and Thai (1). In the Chinese, 2 beta-globin defects at CD 41/42 and IVS2-654 were responsible for 74% of beta-thalassemia. beta-mutations at CD 19, IVS1-1 (G-T), IVS1-5, poly A, and hemoglobin E caused 76% of the hemoglobin disorders in the Malays. The Filipino 45-kb deletion caused 73.3% of bthalassemia in the Orang Asli. Using genomic sequencing, the rare Chinese beta-mutation at CD 43 (G-T) was confirmed in 2 Chinese, and the Mediterranean mutation IVS1-1 (G-A) was observed in a Malay beta-thalassemia carrier. The beta-globin mutations confirmed in this prenatal diagnosis study were heterogenous and 65 (68%) couples showed a different globin defect from each other. The use of specific molecular protocols has allowed rapid and successful prenatal diagnosis of beta-thalassemia in Malaysia.
 ...
PMID:Molecular defects in the beta-globin gene identified in different ethnic groups/populations during prenatal diagnosis for beta-thalassemia: a Malaysian experience. 1559 63

Sickle cell trait (SCT) is usually considered a benign disorder compared with sickle cell anemia (SS hemoglobinopathy). However, several authors have reported cases of exercise-related sudden death in this population. Among the mechanisms that could be involved in these fatal complications, vaso-occlusive processes, such as those occurring in SS hemoglobinopathy, may play a role. In sickle cell anemia, these vaso-occlusive processes involve inflammatory and adhesion molecules such as the cell adhesion molecules (CAM family), which play a role in the firm adhesion of reticulocytes and leukocytes to endothelial cells, and the selectins, which play a role in leukocyte and platelet rolling on the vascular wall. Recent results suggest that adhesion phenomena could be amplified in SCT carriers during exercise compared with non-carriers. Other mechanisms like alterations in blood coagulation and/or hemorheological properties can also favor the occurrence of vaso-occlusive processes. Although few studies have reported coagulation disturbances in SCT carriers at rest, we recently observed no difference between this population and control subjects in response to exercise. In contrast, by studying the behavior of several hemorheological parameters in response to several types of exercise, we detected hemorheological abnormalities in individuals with SCT. These abnormalities included higher red blood cell rigidity and higher blood viscosity in the SCT carriers compared with the non-carriers, particularly during the late recovery period (24 and 48 h after exercise). Therefore, we can suggest that the risks for microvascular complications in SCT carriers in response to exercise could be dependent on alterations in blood rheology and vascular adhesion processes.
 ...
PMID:Blood rheology abnormalities and vascular cell adhesion mechanisms in sickle cell trait carriers during exercise. 1850 23