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

Bone marrow transplantation is increasingly used to treat a spectrum of diseases in man, including immune and genetic disorders, hematological diseases, and cancer. Approximately 11,000 transplants have been performed worldwide since 1970. About two-thirds of these transplants have involved donors, including related and unrelated individuals, and in the remaining third the patient's bone marrow has been used in the form of an autotransplant. In some disorders and under carefully defined circumstances, bone marrow transplantation appears to be the preferred therapy; these diseases include aplastic anemia, acute myelogenous leukemia, acute lymphoblastic leukemia, chronic myelogenous leukemia, and selected immune and genetic disorders. In other circumstances, the value of bone marrow transplantation is less well defined. Diseases in which bone marrow transplantation may be of benefit include Hodgkin's and non-Hodgkin's lymphoma, other cancers, thalassemia, hemoglobinopathies, genetic disorders, and possibly multiple myeloma. It has been difficult to precisely identify the role of bone marrow transplantation in many of these diseases. Prospective randomized controlled clinical trials have sometimes shown an advantage for bone marrow transplantation, but in most circumstances a benefit is as yet unproven. In the U.S. the annual incidence of individuals with diseases in which bone marrow transplantation is thought to be of proven benefit is approximately 5,400, and an additional 15,000 individuals annually have diseases in which bone marrow transplantation is thought to be of possible benefit. This study reviews data available from both controlled and uncontrolled clinical trials indicating the potential role of bone marrow transplantation in the treatment of human diseases.
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PMID:Clinical trials of bone marrow transplantation. 352 45

In this paper we reviewed the different methods presently available for prenatal diagnosis of hemoglobin disorders and the impact of this technology in the control of beta-thalassemia in several Mediterranean populations. The vast majority of the inherited hemoglobinopathies can now be detected in the fetus by amniocyte or trophoblast DNA analysis. alpha-thalassemias, delta beta-thalassemias and gamma delta beta-thalassemias, which are usually caused by a gross structural rearrangement of the DNA, may be directly detected by Southern blot analysis. Only a few beta-thalassemia lesions are caused by gene deletion or affect a restriction recognition site and thus may be directly identified by this method. The major part of beta-thalassemia are due to single nucleotide substitution, small deletion or addition which do not alter a restriction recognition site. These mutations may be directly detected by complementary oligonucleotide probes. Alternatively, when normal or affected children are available, fetal diagnosis may be accomplished by linkage analysis with polymorphic restriction sites. Fetal blood analysis is used at present time for those cases presenting too late in the pregnancy for characterization of the molecular defect and in prospective parents in whom the defect is not known. Introduction of prenatal diagnosis in combination with carrier screening in several mediterranean populations led to a consistent reduction in the incidence of homozygous beta-thalassemia.
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PMID:Prenatal diagnosis of inherited hemoglobinopathies. 354 Feb 10

Impairment of red cell deformability (and decrease of survival time) is the common trait of congenital haemolytic anemias with the exception of the enzyme defect glucose-6-phosphate-dehydrogenase (GPDH) deficiency. Causes for increased red cell rigidity may be: spherocytosis (familial hemolytic anemia), instable less fluid Hb (instable hemoglobinopathy), abnormal HbS-formation (sickle cell disease), genetic synthesis defect of Hb chains (homozygous beta-thalassemia), enzyme defects (autosomal recessive pyruvate-kinase deficiency). With GPDH red cell deformability remains unchanged. Splenectomy may be beneficial in anemias with erythrocyte rigidification if clinical condition so requires (repeated transfusions, aplastic and hemolytic crises). Assessment of red cell deformability in vitro saves laborous and exposure to radiation involving testing of cell survival time (e.g. radiochrome test).
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PMID:[Reduced deformability of erythrocytes as a common denominator of hemolytic anemias]. 354 86

With the recent immigration of Southeast Asians to Canada, hemoglobin E has become a frequent diagnosis. The clinical and hematologic findings in 42 children (mean age 4.3 years) with hemoglobin E are presented. There were 33 heterozygotes (having hemoglobin E trait), 6 homozygotes (having hemoglobin EE) and 3 double heterozygotes (having hemoglobin E-beta-thalassemia). The heterozygotes had low-normal hemoglobin levels and mean corpuscular volumes; coexisting iron deficiency, present in 62% of these children, resulted in substantially lower hemoglobin levels, very low mean corpuscular volumes and lower than expected levels of hemoglobin E on electrophoresis. The children with hemoglobin EE were only slightly anemic, but those with hemoglobin E-beta-thalassemia had severe anemia and required long-term transfusion therapy. Nutritional factors and parasitic infestations were the main causes of iron depletion, which was common, particularly in children less than 2 years old (87%). Physicians of patients of Southeast Asian origin should be aware of the clinical and hematologic presentation of these hemoglobinopathies.
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PMID:Hemoglobin E: a common hemoglobinopathy among children of Southeast Asian origin. 359 33

A systematic screening for thalassemias and hemoglobinopathies was performed in 35,289 children with a double test associating blood cell counts and hemoglobin electrophoresis. Four hundred thirty-seven (1.23%) hemoglobin abnormalities were found, consisting of 274 cases with thalassemia (0.77%) and 159 hemoglobinopathies (0.45%) among which there were 80 cases with sickle-cell trait (0.22%), 30 with hemoglobin C (Hb C) (0.08%), 19 with Hb D (0.05%), 12 with HbJ (0.03%), 12 with Hb E (0.03%). There was an obvious ethnic influence as, among 17,180 autochtonal French children, only 15 abnormalities were found (0.08%) while 392 were found in 16,850 non autochtonal children (2.32%) and 30 in 1,259 French children from Corsica (2.38%). The highest incidence was found in Italians (173 of 6,455-2.68%) and Maugrabins (105 of 3,014-3.48%).
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PMID:[School screening of hemoglobinopathies in the Marseilles area. An analytic study of 35,289 tests]. 361 85

Red cell distribution width (RDW), an electronically determined index of anisocytosis, was examined in 60 patients with sickle cell anemia (Hb SS), 28 patients with hemoglobin sickle cell (SC) disease, and seven patients with sickle cell-beta(+) thalassemia (S-thal). All patients were adults and in the steady state of their disease. The RDW was greater in sickle cell patients than in 39 healthy, age and race matched controls without hemoglobinopathy (Hb AA). Patients with sickle cell anemia had higher mean RDW than those with Hb SC disease or with S-thal. The mean RDWs in the latter two disorders were not significantly different. In SS patients, the RDW correlated significantly with the degree of anemia and reticulocytosis. A group of 18 SS patients was studied while in acute painful crisis. Their mean RDW was not different from that in the steady state. Mean WBC and red cell volume, however, were significantly higher during pain crisis.
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PMID:Red cell distribution width in sickle cell disease. 374 Jul 96

The overall results of the WHO International Registry for the Prenatal Monitoring of Hereditary Anemias are summarized in Tables 11 and 12. Comparison of data regarding adequacy of samples, and freedom from errors and from fetal losses show that the chance of a couple obtaining a useful result is greater than 90%, whether fetal flood is sampled because the fetus is at risk for a hemoglobinopathy or another disease, or fetal DNA is obtained for globin gene analysis. Each approach serves as a model for the others. Fetal blood sampling technology has been improved because of the need for entirely pure samples for diseases requiring specimens other than red cells. The advances in obtaining fetal cells early in pregnancy and extraction of DNA will soon be applied to diseases other than hemoglobinopathies (such as hemophilias and muscular dystrophies) as molecular probes become available. More than 6000 fetuses have now been examined in utero, 5617 for all hemoglobinopathies using fetal blood or DNA, and 5921 for all disorders using fetal blood (Table 12). The total reported to the Registry by the end of 1983 was 6282 cases. At the moment, the only choices when an affected fetus is detected are termination of the pregnancy, or delivery of a child known to have a serious and sometimes life-threatening illness. However, early diagnosis will lead to early treatment of such infants, thereby offering a better prognosis. When specific treatment such as gene therapy becomes available, fetal diagnosis will identify the appropriate cases in utero. Although this approach is currently speculative, it is an area of great interest and endeavor. Thus, prenatal diagnosis of hemoglobinopathies has led to the development of fetal diagnosis of many genetic diseases, and resulted in techniques for obtaining fetal blood or DNA specimens. In addition to these scientific advances, it has also led to the control of thalassemia in certain geographic areas in which the public health burden involved in the management of such cases is overwhelming. Reduction of the number of newborn thalassemics is a necessity in some places, because appropriate care has not been possible, and the lifespan of affected individuals is significantly shortened or at least uncertain. All approaches to management of this disease are relevant, including improved treatment, specific therapy, and prenatal diagnosis. Each country and each family must determine for itself where to place the emphasis.
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PMID:Antenatal diagnosis of thalassemia: a review. 389 76

A 64-year-old woman with thalassemia presented with fullness of the upper abdomen. Calcification in the left upper quadrant suggested splenic artery aneurysm. The diagnosis was confirmed by arterial injection digital angiography. The patient had a benign course following resection of the aneurysm. This is the first reported incidence of the noted hemoglobinopathy occurring in conjunction with a visceral aneurysm. Digital subtraction angiography has not been previously reported in the diagnostic evaluation of visceral artery aneurysms.
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PMID:Use of digital subtraction angiography in the diagnosis of splenic artery aneurysms. 390 50

Prenatal diagnosis of thalassemia and of the hemoglobinopathies is now accepted as an effective measure to reduce the impact of these diseases in populations where they occur in high frequencies. The procedure has been carried out on more than 5,000 cases over the past decade. Evaluation of the results shows a significant decrease of the yearly number of affected newborns and reflects a considerable gain in economic and medical resources. Methodology has improved over the years so as to make the procedure safer, faster, and less expensive. Among recent advances, gene mapping on trophoblast DNA (as early as the 9th week of pregnancy) represents a major step which will gradually replace conventional procedures (performed during the 18-20th week of pregnancy) in concerned laboratories.
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PMID:Prenatal diagnosis of thalassemia and of the hemoglobinopathies; a review. 391 Jun 16

Alpha-thalassemia is the most common cause of hydrops fetalis among Southeast Asians. With the recent influx of Southeast Asian refugees and the rapidly growing Filipino population this will become an increasingly important obstetric problem in the United States. Homozygous alpha-thalassemia, or Bart hemoglobinopathy, is invariably fatal to the fetus and produces significant maternal morbidity. Eighteen cases of homozygous alpha-thalassemia in one hospital are reviewed. This is the largest series reported in the United States. Recommendations are made for antenatal screening, diagnosis, and management of alpha-thalassemia.
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PMID:Hydrops fetalis secondary to Bart hemoglobinopathy. 394 25


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