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

The study of 176 subjects with beta-thalassemia, associated or not with a hemoglobinopathy, shows great diversity. The hemoglobin C thalassemias are less severe and form a fairly homogeneous group. Sickle cell thalassemia cases have more marked anemia and the disease takes on more varied forms, no doubt because the main mechanism of the anemia, the hyperhemolysis, is influenced by several factors which have a variable effect on the clinical picture. Unassociated thalassemias seem the most polymorphic. Although it seems that in certain foci the beta-thalassemias are fairly stereotyped, this first study shows in Algeria great heterogeneity. All forms are observed both clinically and in the laboratory. Present classifications have not supplied a sufficiently operative model. It is not doubt necessary to await further progress in the laboratory to classify these diseases more precisely.
Sem Hop 1977 Apr 23
PMID:[Clinical and biological aspects of beta-thalassemia. Apropos of 176 cases]. 19 8

In this paper are brought the results obtained in two Parisian hospitals during a survey of abnormal hemoglobins in 540 immigrant workers coming from Africa, mostly from Mali, Mauritania and Senegal. All the subjects investigated were male and between 20 and 40 years old. The studies were performed following internationally standardized technics. The most frequent abnormalities were: Hb S found in 16.3%, Hb C (6.6%), alpha-thalassemia trait (3.1%) and beta-thalassemia trait (3.1%). Some rare abnormalities were also found: delta-chain variants, hereditary persistance of foetal hemoglobin, Hb Hope and Hb Grady. This work emphasizes the high frequency of the different hemoglobin disorders in this population. The easy diagnostic of electrophoretically detectable variants is compared to the more complex situation of thalassemia leading probably to an under estimation of the percentage.
Sem Hop
PMID:[Hemoglobinopathies in West-African immigrant workers in France (author's transl)]. 21 87

A series of 17 cases of gallstones in children observed over a period of 10 years in the area of Marseilles is described and the literature reviewed. The majority of children were girls over 10 years old. Symptoms were constantly present and the disease revealed nine times by acute "mechanical" cholecystitis, compared to 16 infectious cholecystitis followed during the same period, three times by an accident of migration (cholangitis in a 14 years old girl, bile ascitis in two infants). A cholecystography should be performed in acute recurrent abdominal pain of unknown origin in children, gallstones appearing to be radiotransparent in six patients. Among causes of gallstone formation, the authors dig out only 6 hemolytic anemias, related to hemoglobinopathies in three patients, and they emphasize the frequency of idiopathic cholelithiasis which should lead to a more complete investigation of the enterohepatic cycle and chemical constitution of bile in such patients.
Sem Hop
PMID:[A clinical survey on 17 cases of cholelithiasis in childhood (author's transl)]. 22 Jul 27

One hundred and twenty-three cases of sickle-cell trait (122 negro immigrants) are studied in a department of internal medicine. The frequencies of G6PD deficiency, anemia, splenomegaly and tuberculosis are neighbouring at the negro without hemoglobinopathy. The relationship between the sickle-cell trait and the reason of admission of the final diagnosis il likely in 2,4 % of the cases, doubtfully in 15,4 %, null in the other cases. The occasional (hemolytic, thrombotic, painful, visceral, osseous) manifestations of the sickle-cell trait (apart from the constant hyposthenuria) and their mechanism are summarized and discussed.
Sem Hop
PMID:[One hundred and twenty-three cases of sickle-cell trait (author's transl)]. 625 31

The various etiologies of spontaneous hemarthrosis in adolescents and adults are reviewed: they include systemic diseases and local or regional disorders of the bones or joints. Among systemic diseases, the two main causes are coagulation disorders and hemoglobinopathies. Coagulation disorders may be either acquired (leukemia, thrombopenia, and hypoprothrombinemia induced by anticoagulant drugs with hemarthrosis being one of the major complications) or inherited (hemophilia which is not considered here, von Willebrand disease, and congenital thrombopathies). Hemoglobinopathies, particularly sickle-cell disease, are responsible for hemarthrosis in a few patients. Among local or regional disorders of the bones or joints, tumors such as hemangioma or synovial sarcoma are uncommon causes. Hemarthrosis is the main feature of pigmented villonodular synovitis. Hemarthrosis may occur in degenerative and metabolic diseases: while it is extremely rare in arthritis, it is frequently encountered in articular chondrocalcinosis which is the first diagnosis to consider when hemarthrosis occurs in an elderly patient. The search for an etiology, which is often difficult, should include a review of prior illnesses, a study of coagulation, and local clinical, radiological and biological investigations, with a study of the synovial fluid; in some instances, arthroscopy, synovial biopsy and even surgical exploration are required. Management includes rest, analgesics, antiinflammatory drugs and, above all, arthrocentesis which is essential for the prevention of articular damage and functional sequellae. Specific therapy is dependent on the etiology. In recurrent hemarthrosis, isotopic synoviorthesis may ensure lasting resolution of the effusion.
Sem Hop 1982 Nov 11
PMID:[Spontaneous hemarthrosis in adolescents and adults, excluding hemophilia]. 629 20

Enlarged spleen, fever, increased susceptibility to infections, and thrombocytosis, are manifestations of iron deficiency which are relatively specific of pediatric patients. Iron deficiency anemia is part of everyday pediatrics. Patients are referred to the hematologist in the following situations: 1) Therapy is ineffective for one of the following reasons: the hypochromic anemia is not caused by iron deficiency (hemoglobinopathies); iron is less efficiently used because of transferrin deficiency or infectious, inflammatory or cancerous disease; iron therapy is inadequate either because of insufficient dosage or of suboptimal duration. 2) A relapse occurs in spite of adequate therapy. Before investigating the digestive tract, abnormal hemostasis. Osler-Weber-Rendu syndrome and pulmonary hemosiderosis should be considered. 3) Iron deficiency anemia is less common in adolescents. This condition, known as chlorosis, results mainly from increased needs, unbalanced diet, and onset of menses. In some cases no explanation is found but iron therapy leads to recovery. 4) Difficult problems arise in patients with complex anemias: iron deficiency with folic acid or vitamin B12 deficiency; hyposideremia complicating one of the hemoglobinopathies.
Sem Hop 1982 Nov 25
PMID:[Iron-deficiency anemia. Hematologist's viewpoint]. 629 49

The authors report two studies : 1) Retrospective : study of liver biopsies in 44 Africans : 22 were HBs Ag positive and 22 HBs Ag negative ; 10 of the HBs Ag positive subjects were found to have chronic persistent hepatitis (CPH), 4 chronic active hepatitis (CAH) and 3 cirrhosis ; 2 of the HBs Ag negative subjects were found to have CPH and 3 CAH ; as far a biological findings are concerned, only the CAH and cirrhosis groups differed from the control group, with higher prothrombin times, transaminase levels and gammaglobulin levels. 2) Prospective : study of the incidence of HBs Ag carriage in 168 Africans ; 17.8 % of them were found to be carriers ; no correlation was found between HBs Ag carriage and S. haematobium schistosomiasis or hemoglobinopathies.
Sem Hop 1983 Oct 06
PMID:[Hepatopathies associated with chronic carriage of HBs antigen in black African immigrants in France]. 631 28

Hemoglobinopathies are the most common inherited disorders in humans; the most frequent are hemoglobins S and C (Hb S and Hb C). Studies in Brazil show the high prevalence of Hb S and Hb C heterozygotes, indicating the need for diagnosis to allow medical care and suitable genetic counseling. This study evaluates the prevalence of hemoglobin patterns in different areas of Rio Grande do Sul State, Brazil, using neonatal data from the public health system. Blood samples from 117,320 newborns, obtained by heel stick, and 2,389 blood samples from parents of newborns, obtained by venopuncture, were submitted to IEF and HPLC. Among the newborns, 1,629 (1.4%) showed abnormal hemoglobin patterns: 1,342 FAS; 225 FAC; 45 FAD; 2 FSC; 1 FS and 26 variant hemoglobin heterozygotes. We conclude that the methods used are able to identify a broad variety of hemoglobin patterns with high specificity and sensitivity. The information is of paramount importance for transmitting knowledge in the public health field, besides facilitating planning and resource allocation.
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PMID:[Neonatal screening for hemoglobinopathies: a one-year experience in the public health system in Rio Grande do Sul State, Brazil]. 1683 42