RESUMO
To further explore the cause for variation in hemoglobin F (Hb F) levels in sickle cell disease, the beta globin restriction-fragment length polymorphism haplotypes were determined in a total of 303 (126 SS, 141 AS, 17 S beta(0), 7 A beta, (0) and 12 AA) Indians from the state of Orissa. The beta(s) globin gene was found to be linked almost exclusively to a beta(S) haplotype ( -++-), which is also common in Saudi Arabian patients from the Eastern Province (referred to as the Asian beta(s) haplotype). By contrast, the majority of beta A and beta(0) thalassemia globin genes are linked to haplotypes common in all European and Asian populations (+-----[+/-]; --++-++). Family studies showed that there is a genetic factor elevating Hb F levels dominantly in homozygotes (SS). This factor appears to be related to the Asian beta(s) globin haplotype, and a mechanism for its action is discussed. There is also a high prevalence of an independent Swiss type hereditary persistence of fetal hemoglobin (HPFH) determinant active in both the sickle cell trait and in sickle cell disease.
Assuntos
Anemia Falciforme/metabolismo , Hemoglobina Fetal/análise , Globinas/genética , Adolescente , Adulto , Anemia Falciforme/genética , Criança , Pré-Escolar , Haplótipos , Heterozigoto , Homozigoto , Humanos , Índia , Jamaica , Talassemia/metabolismoRESUMO
To further explore the cause for variation in hemoglobin F (HbF) levels in sickle cell disease, the á globin restriction-fragment length polymorphism haplotypes were determined in a total of 303 (126SS, 141AS, 17Sá§, 7Aá§, and 12AA) Indians from the state of Orissa. The ás globin gene was found to be linked almost exclusively to a ás haplotype (+++-++-), which is also common in Saudi Arabian patients from the Eastern province (referred to as the Asian ás haplotype). By contrast, the majority of áA and ᧠thalassemia globin genes are linked to hoplotypes common in all European and Asian populations (+-----[+/-];--++-++). Family studies showed that there is a genetic factor elevating HbF levels dominantly in homozygotes (SS). This factor appears to be related to the Asian ás globin haplotype, and a mechanism for its action is discussed. There is also a high prevalence of an independent Swiss type hereditary presistance of fetal hemoglobin (HPFH) determinant active in both the sickle cell trait and in sickle cell disease.(AU)
Assuntos
Humanos , Pré-Escolar , Criança , Adolescente , Adulto , Anemia Falciforme/metabolismo , Hemoglobina Fetal/análise , Globinas/genética , Anemia Falciforme , Haplótipos , Heterozigoto , Homozigoto , Índia , Jamaica , Talassemia/metabolismoRESUMO
A study of 131 patients with homozygous sickle cell (SS) disease in Orissa State, India, indicated that, compared with Jamaican patients, Indian patients have higher frequencies of alpha thalassaemia, higher fetal haemoglobin, total haemoglobin, and red cell counts, and lower mean cell volume, mean cell haemoglobin concentration, and reticulocyte counts. Indian patients have a greater frequency and later peak incidence of splenomegaly, and hypersplenism is common. Painful crises and dactylitis are not uncommon in Indian patients but chronic leg ulceration is rare. Homozygous sickle cell disease in Orissa is similar to that in the Eastern Province of Saudi Arabia and is very different from that in populations of West African origin.
Assuntos
Anemia Falciforme/epidemiologia , Adolescente , Adulto , Anemia Falciforme/sangue , Anemia Falciforme/genética , Criança , Pré-Escolar , Contagem de Eritrócitos , Índices de Eritrócitos , Feminino , Hemoglobina Fetal/análise , Hemoglobina A2/análise , Humanos , Índia , Jamaica , Masculino , Pessoa de Meia-Idade , Reticulócitos/patologia , Talassemia/sangue , Talassemia/epidemiologia , Talassemia/genéticaRESUMO
A study of 131 patients with homozygous sickle cell (SS) disease in Orissa State, India, indicated that, compared with Jamaican patients, Indian patients have higher frequencies of alpha thalassaemia, higher fetal haemoglobin, total haemoglobin, and red cell counts, and lower mean cell volume, mean cell haemoglobin concentration, and reticulocyte counts. Indian patients have a greater frequency and later peak incidence of splenomegaly, and hypersplenism is common. Painful crises and dactylitis are not uncommon in Indian patients but chronic leg ulceration is rare. Homozygous sickle cell disease in Orissa is similar to that in the Eastern Province of Saudi Arabia and is very different from that in populations of West Africa origin.(Summary)
Assuntos
Humanos , Pré-Escolar , Criança , Adolescente , Adulto , Pessoa de Meia-Idade , Masculino , Feminino , Anemia Falciforme/epidemiologia , Anemia Falciforme/sangue , Anemia Falciforme/genética , Estudo Comparativo , Contagem de Eritrócitos , Índices de Eritrócitos , Hemoglobina Fetal/análise , Hemoglobina A2/análise , Índia , Jamaica , Reticulócitos/patologia , Talassemia/sangue , Talassemia/epidemiologia , Talassemia/genéticaRESUMO
Serum creatine kinase levels were determined in 75 girls (age range, one month to 15 years) and 200 normal adult women (age range, 18 to 50 years). The values ranged from 12.5 to 80 IU/1 in girls and 19 to 155 IU/1 in adult females. The SCK level appeared to increase with age from 1 to 15 years, after which the level remained fairly constant. These data should be helpful in the detection of carriers of X-linked forms of muscular dystrophy.
