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

The clinical aspects of Hemoglobinopathy S in children of a black family from Zair living in Belgrade are discussed in the paper. The parents and two brothers are heterozygous carriers for patologyc hemoglobines; those children had, sauf permanent anaemia, the crysis of dyspnea, cyanosis, cough, evidence of subperiosteal bone formation, associated with vitamin D deficiency. The Youngest child, girl two years of age, is homozygous with complete Sickle cell disease: hand-foot syndrome, heterotopic paravertebral hematopoetic tissue, lung infarctions, cardiomegaly, severe drepanocytic anaemia; she succumbed in an a attack after many episodes of severe hypoxia.
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PMID:[Hemoglobinpathy S--clinical manifestations in children in a Zairian family]. 61 14

Human red blood cells (RBCs) are subject to an enormous degree of genetic diversity. The variability that occurs may result in anemia, cyanosis, polycythemia, or may cause no hematologic alterations. Genetic abnormalities affecting hemoglobin include the sickling disorders, the unstable hemoglobinopathies, hemoglobinopathies associated with polycythemia or with methemoglobinemia, and the alpha- and beta-thalassemias. The most common enzymatic abnormality of RBCs is glucose-6-phosphate dehydrogenase deficiency, but defects of many other enzymes leading to hemolytic anemia have been identified. Deficiences of RBC enzymes may also be important in the diagnosis of nonhematologic disease and in the evaluation of dietary status.
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PMID:Genetic disorders of human red blood cells. 117 73

A kindred with a familial hemoglobinopathy and familial primary pulmonary hypertension with autosomal dominant transmission has been identified. Affected family members were obvious from their cyanosis due to a reduced affinity for oxygen by the hemoglobin variant. The mother and one child had clinical pulmonary hypertension, whereas two siblings had cyanosis and preclinical pulmonary vascular disease as evidenced by abnormal perfusion lung scans and elevated levels of fibrinopeptide A in the face of normal pulmonary hemodynamics. In one, pulmonary hypertension could be induced with exercise. The studies on this family support the hypothesis that primary pulmonary hypertension may be initiated by abnormalities of the pulmonary vascular bed that predispose to in situ thrombosis. The possible common genetic transmission of the two diseases offers the speculation that the gene that confers predisposition to pulmonary hypertension may be located near the gene responsible for beta globulin.
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PMID:Familial pulmonary hypertension in association with an abnormal hemoglobin. Insights into the pathogenesis of primary pulmonary hypertension. 170 27

Based on cases referred for investigation, as well as a questionnaire sent to all medical and pediatric departments in Denmark, 48 cases of hemoglobinopathy in 15 families of Danish ancestry are reviewed. 18 Danes in six families have been identified as having beta-thalassemia, and remarkably one - a homozygote - has beta-thalassemia intermedia requiring treatment with iron-chelation therapy. A further 36 Danes in 9 families have a hemoglobin variant: five unstable hemoglobins (Volga, Niteroi, and three unidentified), one hereditary methemoglobinemia (M-Arhus), one polycythemia (Ty Gard) and 2 asymptomatic (Athens-Georgia and Hafnia). Although rare in Danish families, a hemoglobinopathy should be considered in families with an unexplained chronic hemolytic anemia, cyanosis or polycythemia.
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PMID:Hemoglobinopathies in Danish families. 277 54

The study of abnormal hemoglobins was oriented towards three criteria as a function of commonly encountered clinical problems : differentiation between frequent, relatively infrequent and exceptional hemoglobins ; systematic study of high-risk ethnic groups and isolated discoveries ; silent hemoglobinopathies and those accompanied by physiopathological repercussions such as hemolytic anemia, disturbance in oxygen transport and cyanosis. The chronology and rationale for these studies was discussed, with particular attention being given both to normalized baseline measures and to the new, high-resolution techniques such as isoelectric focalization. No attempt was made to provide an exhaustive list, but rather examples were provided illustrating the various points considered. Finally, a number of particular points are brought up to where a correctly made diagnosis can avoid the necessity of subjecting patients to long and possibly dangerous tests.
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PMID:[Recent data concerning abnormal hemoglobins (author's transl)]. 730 88

Intraoperative cyanosis is an utmost emergency for anesthesiologist. If the patient has adequate control ventilation, and normal cardiac pulmonary physiology, then methemoglobinemia must be considered. Reported here is a normal female with dark color lip on the second day after her second parturition and was undergoing tubal ligation. Twenty minutes after induction of general anesthesia and endotracheal intubation, dark blood at the incision site was noted by the operator. After emergent check up of the anesthesia machine, tubings, breathing sound and arterial blood gas, there was only one suspicion left. Methemoglobinemia was confirmed by the hematological examination. Methemoglobinemia is a product from the oxidation of the iron atom in the heme ring when oxygen dissociates from it. This process exists in nature, but can also be induced by nitrate or nitrite-containing drugs or foods or benzene-like organic compounds. Methemoglobinemia can be differentiated from normal hemoglobin by mass spectrometry. If acute illness develops, patients should be treated with methylene blue. Otherwise ascorbic acid will do. This case is reported to remind all anesthesia personnel about one of the rare but serious hemoglobinopathy.
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PMID:[Another reason for cyanosis--methemoglobinemia]. 803 75

Blood from seven newborns, a 13-y-old, and seven adult family members with a suspected hemoglobinopathy because of unexplained cyanosis was obtained for analysis to determine Hb oxygen affinity and to characterize and quantify the Hb variants. Their oxygen saturation was 76 to 84%. The P(50) was 30.3 +/- 2.9 for the newborns and 32.5 +/- 2.6 mm Hg for their related adults. In the same order, the plasma erythropoietin was 7.4 +/- 2.9 and 15.9 +/- 3.7 mU/mL, whereas 2,3-diphosphoglycerate was 16.1. +/- 2.9 and 15.9 +/- 3.7 micromol/g Hb. In four of the newborns with increased P(50), the mother had a normal P(50) (27 mm Hg), which indicated a greater maternal oxygen affinity than the fetus with no adverse effects on the fetus. Genetic analysis of alpha-globin genes demonstrated a heterozygous mutation on the alpha2 gene [alpha94(G1)Asp-->His] for each of the newborns and their related adults. The same mutation was found on the alpha1 gene in an adolescent and her father. The mRNA measurements showed that the alpha2- to alpha1-globin mRNA mean ratio was 2.5, alpha2 mutant globin mRNA/total alpha2-globin mRNA was 45.0%, whereas the alpha1 mutant globin mRNA/total alpha1-globin mRNA was 37.8%. The level of alpha2 mutant globin/total alpha-globin was 27.3 +/- 1%, and alpha1 mutant globin/total alpha-globin was 23.8 +/- 1%. The percentage of synthesized alpha2 and alpha1 mutant globins was 27.5 +/- 2 and 26.1 +/- 1, respectively. The ratio of the alpha2/alpha1 mutant globins was 1.1, which corresponded to a ratio at the mRNA level of alpha2/alpha1 of 2.5 +/- 0.5, which suggested that there is a less efficient translation of the alpha2 mRNA than alpha1 mRNA. The reversal of the physiologic fetomaternal oxygen affinity had no effects on fetal development.
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PMID:The biologic implications of a rare hemoglobin mutant that decreases oxygen affinity. 1113 94

Hb-M is a very rare hemoglobinopathy in the Indian subcontinent. We report a family with Hb-M with lifelong cyanosis from the Ratnagiri district in western India. The propositus was a 11-year-old female child with a history of increasing cyanosis exacerbated by fever and weakness. Similar complaints were also noted in her mother and five maternal family members. There was no history of cardiac illness or exposure to drugs and chemicals. The methemoglobin level was 39.3% in the propositus and 21.1% in her mother with normal NADH-methemoglobin reductase activity. Abnormal absorption peaks by spectroscopic analysis, presence of hemoglobin instability, and a slow-moving band on starch gel electrophoresis supported the presence of Hb-M. Automated DNA sequence analysis of the beta globin gene showed a C-->T substitution at codon 63. This leads to a substitution of histidine (CAT) by tyrosine (TAT) at the beta 63 (E7) position, similar to Hb-M Saskatoon. We have named this variant as Hb-M(Ratnagiri).
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PMID:Congenital methemoglobinemia caused by Hb-MRatnagiri (beta-63CAT-->TAT, His-->Tyr) in an Indian family. 1592 17

The erythropoietic system plays a major role in tissue oxygenation because the erythrocytes are the primary carriers of oxygen in the form of oxyhemoglobin. Therefore, clinical entities such as abnormal hemoglobins, polycythemia, anemia, and significant changes in blood volume frequently produce alterations in various respiratory functions. The pulmonary manifestations can vary from mild respiratory illness to life-threatening emergencies with high mortality rates. Among the hemoglobinopathies, sickle cell disease is clinically the most important and commonly associated with serious pulmonary consequences, including acute chest syndrome, pneumonia, infarction due to in situ thrombosis, bone marrow fat embolism of pulmonary vasculature, bone marrow infarction, pulmonary hypertension, and other abnormalities. Hemoglobinopathies with high and low affinity for oxygen and other abnormal hemoglobinopathies occasionally cause clinically significant respiratory complications by interfering with normal tissue oxygenation. Acquired methemoglobinemia can cause alarming cyanosis and medical emergency. Erythrocyte disorders are associated with pulmonary complications, including pulmonary hypertension, alveolar fibrosis, and pulmonary dysfunction. Coagulation disorders, both the inherited and acquired types, have the potential to affect the respiratory system in the form of hemorrhage from the airways, lung parenchyma, or pulmonary hypertension. The following paragraphs describe the common pulmonary complications and manifestations associated with hemoglobinopathies, erythrocyte disorders, and coagulation abnormalities.
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PMID:Lungs in hemoglobinopathies, erythrocyte disorders, and hemorrhagic diatheses. 1626 4

Haemoglobinopathies constitute entities that are generated by either an abnormal haemoglobin or thalassaemias. While abnormal haemoglobins are caused by a qualitative structural abnormality of the haemoglobin molecule, thalassaemias result by diminished synthesis of the globin chain. Due to increased immigration from Asia, Africa and the Mediterranean to Northern Europe, haemoglobin S, haemoglobin C, haemoglobin E are also encountered commonly in Switzerland, while other abnormal haemoglobins are rare, yet can cause clinically relevant symptoms. This include haemolysis, polyglobulia, cyanosis or a combination thereof Thalassaemia-syndroms constitute with two million affected individuals to the most prelevant monogenetic diseases worldwide. Due to migration into Switzerland, they are also found quite commonly among our patients with 10-15 per cent of all hypochromic, microcytic, anemia second only to iron deficiency. Importantly, thalassaemias and haemoglobinopathies can occur concomitantly sometimes even with a normal haemoglobin variant. This results in wide-spread presentations, making diagnosis and clinical judgement difficult. We describe in this article not only physiological mechanisms and clinical presentation but also propose a step-wise diagnostic algorithm including selective use of molecular biology methods.
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PMID:[Hemoglobinopathies--clinical symptoms and diagnosis of thalassemia and abnormal hemoglobins]. 1645 Jul 33


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