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Query: UMLS:C0019045 (hemoglobinopathies)
 2,704 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Strategies for the treatment of sickle cell anemia and beta-thalassemia are founded on the knowledge that these disorders result from structural or functional defects in an adult gene for which an intact fetal counterpart exists. During the past decade, several pharmacologic agents have been investigated for their potential to ameliorate sickle cell anemia and beta-thalassemia by increasing the synthesis of fetal hemoglobin in adults. Progress in understanding globin gene regulation is now being combined with advances in retrovirus-mediated gene transfer, and the once-distant goal of providing gene therapy for hemoglobinopathies is rapidly approaching reality.
West J Med 1992 Dec
PMID:Future prospects for treatment of hemoglobinopathies. 834 83

Twenty four patients were evaluated for short stature at the University College Hospital, Ibadan, Nigeria, over a seven year period. Fourteen were males, 10 were females and their ages ranged from 6 to 23 years at first presentation. Nine out of the 10 females came to the hospital primarily because of failure of sexual development whereas only 1 of the 14 males presented with this complaint. The causes of short stature were as follows: idiopathic hypopituitarism in 5 (20.8%) patients (4 males, 1 female), gonadal dysgenesis in 5 patients (all females), syndrome of hepatosplenomegaly, dwarfism and poor sexual development in 5 patients (all males); 2 (8.3%) patients had hypothalamic-pituitary lesions, 2 had juvenile hypothyroidism and 1 (4.2%) had sickle cell hemoglobinopathy; the cause of the short stature was not certain in 4 (16.7%) patients. This is perhaps the first time that the syndrome of hepatosplenomegaly of uncertain etiology with delayed growth and sexual maturation previously reported in Iranian and Egyptian adolescents, is being described in black Africans. Although comprehensive hormonal data were not available in most of these patients, this clinical descriptive study is the first attempt at reporting some of the causes of short stature in Nigerians.
West Afr J Med
PMID:Short stature at the University College Hospital, Ibadan, Nigeria. 163 43

Carbamylation of the hemoglobin in sickle cell anemia has been demonstrated to improve the status of this hemoglobinopathy. Using an animal model of West African human patterns of chronic sublethal dietary cyanide ingestion, 12 miniature swine consuming either 0, 0.4, 0.7, or 1.2 mg of cyanide/kg body weight/day were studied for 24 weeks to determine if this dietary regime could produce irreversible carbamylated hemoglobin. Throughout the study, the hematological status of all animals remained similar; however, the levels of carbamylated hemoglobin as measured by nanomoles of valine hydantoin varied proportionally to dietary sublethal cyanide intakes, indicating that these natural dietary levels could effect an important and presumably permanent modification of the hemoglobin's beta chain. Serum thiocyanate levels were also positively correlated with cyanide ingestion loads (r = 0.83, P less than 0.01). The implications of these findings in swine are important for the millions of humans with hemoglobin S who regularly consume similar levels of dietary cyanide and for our assessments of the biochemical and medical status of hemoglobin S under natural conditions.
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PMID:Carbamylation of hemoglobin in vivo with chronic sublethal dietary cyanide: implications for hemoglobin S. 335 17

Recently emphasis in the problem of sickle hemoglobinopathy has been on mass screening of the black population. Concern about the alleged danger in having sickle cell trait itself is offered as part of the justification. This danger is disputed and a position developed for the benign status of sickle cell trait and the potentially serious social harm to blacks so identified. Programs are suggested to foster improved medical care availability and early detection for those with sickle cell anemia. It is suggested that mandatory patient programs be avoided, and that research receive greater emphasis.
West J Med 1974 Jul
PMID:The myth of sickle cell trait. 484 Jan 72

Anemia is responsible for an estimated 20% of maternal deaths in West Africa and contributes to still more deaths through obstetric hemorrhage. Anemia during pregnancy has been linked to iron and folate dietary deficiencies, the secondary effects of malaria and hookworm infestations, infections such as human immunodeficiency virus, and hemoglobinopathies. Parasitic infestations interfere with the normal increase (given a balanced diet) in iron absorption during pregnancy. An understanding of locally salient etiologic factors should form the basis of public health programs aimed at addressing anemia during pregnancy. There is a need for basic prevalence statistics, especially from West Africa's rural areas. Finally, reliable laboratory parameters that can be used in the assessment of iron and folate status and the degree of anemia attributable to malaria must be established. Although there is emerging evidence that serum transferrin receptor concentration is not affected by chronic disease or the physiological changes of pregnancy, further studies are needed to validate this measure.
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PMID:The aetiology of anaemia in pregnancy in West Africa. 913 12

Beta-thalassemia is one of the most common inherited hemoglobin disorders in Pakistan. The carrier frequency is estimated to be 5.4%. To determine the spectrum of beta-globin gene defects causing beta-thalassemia, we have analyzed a representative sample of 602 alleles from six ethnic groups in Pakistan; 99.2% alleles were characterized, while 0.8% remained unidentified. The spectrum of mutations is heterogeneous and we have found 19 different mutations in all ethnic groups. The four most common mutations, IVS-I-5 (G-->C) (37.7%), codons 8/9 (+G) (21.1%), the 619 bp deletion (12.4%), and IVS-I-1 (G-->T) (9.5%), account for 80.7% of the alleles. There are differences between the ethnic groups and also between provinces. In the four provinces of Pakistan, the IVS-I-5 (G-->C) mutation is more prevalent in Sindh and Balochistan, bordering India in the south and Iran in the southwest, while the codons 8/9 (+G) mutation is more common in the Punjab and the North West Frontier Province, bordering India in the northeast and Afghanistan, respectively. The 619 bp deletion is high (46%) in Gujratis and Memons residing in the Province of Sindh, neighboring the Indian Gujrat.
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PMID:Molecular characterization of beta-thalassemia in Pakistan. 973 Mar 64

The incidence of hemoglobinopathies (Hb C and Hb S) is relatively high in West Africa. In order to calculate the gene frequency of these hemoglobinopathies, 6619 students from 23 local schools in Ouagadougou, Burkina Faso, West Africa, and 2582 individuals living in five villages near Ouagadougou, all situated in Savanna, were studied. As expected, the gene frequency in the city schools was 0.111 for the betaC gene and 0.051 for the betaS gene; in the five villages it was 0.122 for the betaC gene and 0.047 for the betaS gene. This data is somewhat different from that published in a previous study by Labie et al. [2] in the humid Savanna region, that showed a higher prevalence of betaC (0.14) than betaS (0.03), and is in contrast to data from the arid Sahel region that showed a higher prevalence of betaS (0.1) compared to betaC (0.05). The higher rate of betaS and lower rate of betaC in students in Ouagadougou, and in the individuals living in the five villages near Ouagadougou, suggest the possible influence of migratory fluxes of the betaS gene from the country region of Sahel. The dramatic increase in the prevalence of Hb SS patients, not reported in the study of Labie et al., [2] may be the result of reduced mortality due to environmental change. In addition, the improved health conditions of Hb SC and the increased life expectancy of Hb SS, may also have facilitated the increase of the betaS gene and the focus on secondary prevention for the control of correlated diseases.
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PMID:Modification in the frequency of Hb C and Hb S in Burkina Faso: an influence of migratory fluxes and improvement of patient health care. 1214 53

The incidence of hemoglobinopathies (Hb C and Hb S) is relatively high in West Africa. In order to characterize the clinical phenotypes of these hemoglobinopathies 10,166 subjects were studied for suspected hemoglobinopathies at the Laboratory of the Centre Medical Saint Camille (CMSC), Ouagadougou, Burkina Faso. A high rate of Hb SC (6.49%) and Hb SS (1.93%) individuals were detected at the CMSC as a consequence of a selective process, whereby patients with anemia or symptoms of vascular occlusive crisis underwent blood tests. The higher frequency of Hb SC may be explained by the fact that this condition is less severe than the SS status, and it requires frequent clinical and laboratory review. On the other hand, the frequency of Hb CC is very low because it does not interfere with their health status. Moreover, the high percentage of Hb S (12.29%) and Hb C (19.28%) trait individuals may be explained by the fact that, in general, all Hb SS and Hb SC patients followed at the CMSC have parents, siblings and other relatives who could have been referred by the center to receive blood tests. The dramatic increase over the past few years in the prevalence of Hb SS [who were absent in the 1984 study of Labie et al. [5]] and of Hb SC, may be attributed to its reduced lethality due to social and health changes. In conclusion, secondary prevention for the control of concurrent and associated diseases is essential in Hb SS and Hb SC patients for improving health and life expectancy.
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PMID:Biological and clinical presentation of patients with hemoglobinopathies attending an urban hospital in Ouagadougou: confirmation of the modification of the balance between Hb S and Hb C in Burkina Faso. 1214 54

Hemoglobin (Hb) Korle-Bu (beta73; Asp-Asn) is the most frequent of the rare beta-chain variants in the population of West Africa whereas Hb E (beta26; Glu-Lys) is common among the Southeast Asian population. We report a hitherto undescribed condition in which these two beta-chain variants co-segregate. The proband was a 19-year-old Thai pregnant woman in her second trimester of pregnancy who visited our thalassemia screening unit. Cellulose acetate electrophoresis and high-performance liquid chromatography (HPLC) analysis of Hb detected one abnormal Hb in addition to the Hb E. Analysis of DNA sequences revealed a GAT-AAT mutation at codon 73 in trans to a GAG-AAG mutation at codon 26 of the beta-globin gene. Polymerase chain reaction (PCR) analysis of the alpha-globin gene cluster of the patient detected a 3.7-kb deletional alpha-thalassemia 2. Family study identified that her mother had the same genotype and her father was a simple Hb E carrier. The hematological data of these unusual cases of hemoglobinopathy are presented and compared with a simple heterozygote for Hb Korle-Bu found in another unrelated Thai family. beta-Globin gene haplotype linked to the Thai beta(Korle-Bu) and a simple DNA assay based on allele-specific PCR for rapid diagnosis of Hb Korle-Bu are also described.
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PMID:Compound heterozygosity for Hb Korle-Bu (beta(73); Asp-Asn) and Hb E (beta(26); Glu-Lys) with a 3.7-kb deletional alpha-thalassemia in Thai patients. 1218 10

The prevalence at birth of hemoglobin defects in the autochthonous North-European population is low. However, the long immigration and colonial history of the Netherlands has resulted in a group of about 1-2 million 'autochthonous' inhabitants, with Asian, South-European or African ancestors, in whom a moderate birth prevalence of globin gene mutations can be expected. Furthermore, at least 10% of the Dutch population consists of recent immigrants from different countries with high birth prevalence of hemoglobinopathies. Because of the endogamous partner choice, which is prevalent in this population, the risk for homozygous progeny remains elevated. At least 100,000 carriers of hemoglobinopathies of recent allochthonous origin are present in the Netherlands, and the number of homozygous children is rising. Prevention by prenatal diagnosis requires a suitable protocol and knowledge about the molecular defects present in the country. Therefore we have analyzed a large number of patients and carriers, both at the hematological and at the DNA level. Our survey revealed 47 different beta-thalassemia determinants, characterized on 223 independent chromosomes from individuals of different ethnic origins. As expected, the most prevalent mutations were largely represented. The cd39 (C-->T) mutation was found in 70% of the immigrants from Morocco, Sardinia and other Central-West-Mediterranean regions while the IVS-I-110 (G-->A) was prevalent in the East-Mediterranean populations. The IVS-I-5 (G-->C) mutation was found in 45% of the patients of Indonesian origin. We also registered 308 independent chromosomes with common structural defects (HbS, HbC, HbE, Hb Lepore, Hb Constant Spring and HbD Punjab) and 33 chromosomes with 19 different, less frequent, rare or very rare mutants. Seven structural mutants were described for the first time and published separately. Furthermore, 139 independent chromosomes with deletional and nondeletional alpha-thalassemia defects were characterized.
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PMID:The molecular spectrum of beta-thalassemia and abnormal hemoglobins in the allochthonous and autochthonous dutch population. 1517 68


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