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At least 649 records · Page 36Linked to original sources
PubMed1969

Erythrocytosis associated with hemoglobin Rainier: oxygen equilibria and marrow regulation.

Hemoglobin Rainier (beta(145) tyrosine-->histidine) is an abnormal hemoglobin associated with increased oxygen affinity, decreased heme-heme interaction, presence of a Bohr effect, and erythrocytosis, but without obvious clinical sequelae. Regulation of erythropoiesis was studied in affected members of families having either hemoglobin Rainier or Yakima, abnormal hemoglobins associated with erythrocytosis. Apart from the elevated but stable hemoglobin concentration and red cell mass, parameters of red cell production in the subjects were normal. Initially normal values of erythropoietin excretion were increased by phlebotomy indicating a significant hypoxic stress at an otherwise normal hematocrit. This stress led to increased reticulocyte production and an eventual return to the prephlebotomy hematocrit. The erythrocytosis in carriers of hemoglobins Rainer and Yakima appears to be secondary to the increased oxygen affinity and this, with the response to phlebotomy, is consistent with the postulate that the renal sensor tissue regulating erythropoietin production is primarily influenced by the oxygen tensions of venous rather than arterial blood.

Adult↗
PubMed1975

[HbM Erlangen: alpha2beta263(e7) tyr. New mutation with haemolysis and NADH-methaemoglobin reductase deficiency (author's transl)].

Report on a further hemoglobin M variant, discovered in a boy with congenital cyanosis. Chemical analysis of hemoglobin structure revealed indentity with HbM Saskatoon (= beta63 His leads to Tyr). The abnormal hemoglobin is characterized by normal oxygen transport function. The observed slight constant hemolysis is thought to be due to increased instability of the abnormal hemoglobin molecule. In addition to the hemoglobin anomaly, the activity of NADH-methemoglobin reductase was reduced by approximately 40% of normal. None of the parents presented with an abnormal hemoglobin, indicating that the occurrence of hemoglobin M Erlangen is most likely the result of a new mutation.

Child, Preschool↗
PubMed1982

Identification of eleven human hemoglobin variants by high-performance liquid chromatography: additional data on functional properties and clinical expression.

Eleven abnormal hemoglobins were detected in the course of cord blood screening or in the evaluation of evident hematological problems in individual cases. Identification of the variant in each case was done by high-performance liquid chromatography (HPLC); HPLC provides a rapid, sensitive means for the examination of abnormal hemoglobins. Some of the 11 variants that were identified have been described repeatedly and are included to provide information on the HPLC behavior of tryptic peptides. Others are much rarer. Additional information is provided about the hematological and clinical expression as well as ethnic and geographical distribution of the abnormal hemoglobin.

Chromatography, High Pressure Liquid↗
PubMed1977

Hemoglobin Pontoise alpha63 Ala replaced by Asp(E12). A new fast moving variant.

The present report describes structural and functional studies of a new hemoglobin variant, Hb J Pontoise. This abnormal hemoglobin was discovered in a 36 year old Spanish man. The substitution of alpha63 (E12) Ala replaced by Asp is situated at an external site and appears to have no influence on the function of the hemoglobin. Nevertheless, it presents some instability in vitro, as demonstrated by the isopropanol test. This instability could partially explain the low percentage of the abnormal hemoglobin in the hemolysate (12%), since its rate of synthesis was normal.

Adult↗
PubMed1993

Allele-specific amplification for the identification of several hemoglobin variants.

Eight known abnormal hemoglobins in more than 40 patients have been identified with an allele-specific amplification procedure. These are mutants of the A gamma (Hb F-Sardinia), the delta (Hb B2), the alpha (Hb G-Philadelphia), and the beta (Hbs S, C, E, D-Los Angeles, O-Arab) globin genes. Adjustment to an unusually high annealing temperature improves the procedure greatly, allowing excellent discrimination between normal and mutant alleles, irrespective of the particular mismatch. The discrimination includes the Hbs C and E in the same reaction mixture-multiplex allele-specific amplification. The procedure can successively use primers with 3'-penultimate critical nucleotides, degenerative ends, and potentially dimerizing properties.

Alleles↗
PubMed1986

Hemoglobinopathies in Xinjiang.

The present report summarizes the results of a search for hemoglobinopathies in 142,171 persons in Xinjiang, the results of structural analyses of abnormal hemoglobins in 134 families, and the incidence and distribution of abnormal hemoglobins and the thalassemias in eight ethnic groups or nationalities.

China↗
PubMed1998

[Study of hemoglobinopathy in Kashi district of Xinjiang].

OBJECTIVE: To study the hemoglobinopathy in Kashi district of Xinjiang. METHODS: The abnormal hemoglobin carriers were investigated with microelectrophoresis. The propositus of thalassemia were tested with two steps of screening technique. The structural analysis of abnormal hemoglobin was carried out with finger print analysis technique. Gene identification of thalassemia was performed with PCR/ASO technique. RESULTS: The incidence of hemoglobinopathy and thalassemia were 0.8% and 3.07%, respectively. Both were higher than the average level in the population of Xinjiang and the whole country. Two kinds of variant of HbJ Tashikuergan [alpha 19(AB1)Ala-->Glu] and HbD Punjab[P121(GH4)Glu-->Gln] were found in the structural analysis of 8 cases of abnormal hemoglobin. Four kinds of mutation: CD8(-AA),CD8/9(+G),CDs41/42(-TTCT) and IVS-I-5(G-->C) were revealed at the gene identification of 10 propositus of beta-thalassemia. HbJ Tashikuergan was firstly reported in the world, and CD8(-AA) and CDs8/9(+G) were firstly discovered in China. CONCLUSION: The types and distribution of abnormal hemoglobin and thalassemia in Kashi district were different from those in other areas of our country, and also unsimilar to our neighbour countries.

Adolescent↗
PubMed1982

First Japanese family with the unstable hemoglobin Zürich [beta 63(e7) His leads to Arg].

Abnormal hemoglobin, which was latter identified as hemoglobin Zürich, was discovered in a 45-year-old female with severe valvular heart disease, congestive heart failure and moderate anemia and hyperbilirubinemia. Same abnormal hemoglobin was demonstrated in her two apparently healthy sons. This is the first reported family of hemoglobin Zürich in Japan.

Adolescent↗
PubMed1987

Hb Linköping (beta 36 Pro----Thr): a new high oxygen affinity hemoglobin variant found in two families of Finnish origin.

Several members representing three generations of two families with erythrocytosis due to a newly described hemoglobinopathy (Hb Linköping, beta 36 Pro----Thr) were studied. All affected family members had a pronounced left-shift of the oxygen dissociation curve, indicating an increased oxygen affinity leading to compensatory erythrocytosis. The proband of each family was found by a simple method determining the oxygen pressure at half hemoglobin saturation (P50), which was used as a screening test evaluating patients with polycythemia. In both cases the hemoglobinopathy was missed by routine hemoglobin electrophoresis. The abnormal hemoglobin was confirmed by isoelectric focusing and the altered amino acid sequence was identified by reversed-phase high-performance liquid chromatography (HPLC). The importance of a correct diagnosis in patients with erythrocytosis due to high-affinity hemoglobin variants is discussed.

Adult↗
PubMed1975

A double heterozygous hemoglobin. Hemoglobin OIndonesia and hemoglobin DPunjab in an individual.

During surveys for abnormal hemoglobins in Iran, an individual was found to have four electrophoretically distinct hemoglobins. The abnormality was found only in the father of the propositus, in two of the father's sisters, and in three brothers and sisters of the propositus. Investigations revealed that the four hemoglobin components are the result of a double heterozygosity between an alpha-chain variant (Hb OIndonesia) and a beta-chain variant (Hb DPunjab). The presence of the abnormal hemoglobins was not associated with hemolytic disorders or obvious clinical symptoms.

Blood Protein Electrophoresis↗
PubMed1982

HB Handa [alpha 90 (FG 2) Lys replaced by Met]: structure and biosynthesis of a new slightly higher oxygen affinity variant.

Hb Handa, an abnormal hemoglobin which isoelectrofocused anodally to Hb A, was found in a 15-year-old Japanese girl and her mother, who were apparently healthy. Clinical and hematological examinations showed no abnormality in individual heterozygous for this mutant gene except for a slight increase of reticulocyte count (2.1-2.4%). Structural studies disclosed an alpha chain anomaly and substitution of alpha 90 (FG 2) Lys replaced by Met. The content of the abnormal hemoglobin in the hemolysate was 17.5-18.3% of the hemoglobin. The isopropanol precipitation test was negative. The purified abnormal hemoglobin showed a slightly higher oxygen affinity than that of Hb A, but Hill's n constant, Bohr effect and organic phosphate effect were within the normal range. Globin chain biosynthesis in reticulocytes indicated that the production rate of the abnormal alpha chain was suppressed to 38% of the normal level.

Adolescent↗
PubMedDate not supplied

Sickle cell anemia.

Sickle cell anemia (SCA) is a disease caused by production of abnormal hemoglobin, which binds with other abnormal hemoglobin molecules within the red blood cell to cause rigid deformation of the cell. This deformation impairs the ability of the cell to pass through small vascular channels; sludging and congestion of vascular beds may result, followed by tissue ischemia and infarction. Infarction is common throughout the body in the patient with SCA, and it is responsible for the earliest clinical manifestation, the acute pain crisis, which is thought to result from marrow infarction. Over time, such insults result in medullary bone infarcts and epiphyseal osteonecrosis. In the brain, white matter and gray matter infarcts are seen, causing cognitive impairment and functional neurologic deficits. The lungs are also commonly affected, with infarcts, emboli (from marrow infarcts and fat necrosis), and a markedly increased propensity for pneumonia. The liver, spleen, and kidney may experience infarction as well. An unusual but life-threatening complication of SCA is sequestration syndrome, wherein a considerable amount of the intravascular volume is sequestered in an organ (usually the spleen), causing vascular collapse; its pathogenesis is unknown. Finally, because the red blood cells are abnormal, they are removed from the circulation, resulting in a hemolytic anemia. For the patient with SCA, however, the ischemic complications of the disease far outweigh the anemia in clinical importance.

Anemia, Sickle Cell↗
PubMed2003

Sickle cell anemia connected with chronic intrahepatic cholestasis: a case report.

Sickle cell anemia is a disease caused by production of abnormal hemoglobin, which binds with other abnormal hemoglobin molecules within the red blood cell to cause rigid deformation of the cell. This deformation impairs the ability of the cell to pass through small vascular channels. Sludging and congestion of vascular beds may result, followed by tissue ischemia and infarction. Liver injury can be caused by the adherence of deformed or hemolyzed erythrocytes to hepatic vascular endothelium. Adhesion of large numbers of hemolyzed red blood cells to hepatic macrophages, or occlusion of hepatic sinusoids by fragmented red cells, can also result in injury of the liver. Chronic intrahepatic cholestasis is an uncommon complication in patients with sickle cell disease. The findings in this case suggest that therapeutic erythrocyte apheresis may benefit patients who have unusual complications of sickle cell disease, such as chronic intrahepatic cholestasis in the liver.

Adult↗