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At least 163 records · Page 9Linked to original sources
PubMed1981

Hemoglobin Hotel-Dieu beta 99 Asp replaced by Gly (g1). A new abnormal hemoglobin with high oxygen affinity.

Hemoglobin Hotel-Dieu was detected by isoelectric focusing during investigation of a patient who had erythrocytosis. This variant migrates on cellulose acetate electrophoresis to a cathodic position relative to Hb F. In hemoglobin Hotel-Dieu, aspartic acid is substituted by glycine in position 99 of the beta chain. As in other abnormal hemoglobins in which substitution of this residue has occurred, Hb Hotel-Dieu exhibits a high oxygen affinity and is associated with familial erythrocytosis.

Adult↗
PubMed2004

[Prevalence of abnormal hemoglobins in newborns in Natal, Rio Grande do Norte, Brazil].

Hemoglobinopathies are among the most prevalent hereditary diseases in humans. Studies in different areas of Brazil have identified the prevalence of S and C abnormal hemoglobins. The study analyzed 1,940 cord blood samples of newborns from maternity hospitals in Natal, Rio Grande do Norte State, to investigate the prevalence of abnormal hemoglobins. All samples were submitted to cellulose acetate electrophoresis using a Tris-EDTA-borate buffer at pH 8.5. Electrophoresis in agar gel pH 6.2 was performed on samples presenting abnormal hemoglobin. Some 37 (1.91%) of the newborns presented hemoglobinopathies, as follows: 29 (1.50%) sickle cell trait (Hb FAS), 6 (0.31%) heterozygous Hb C (Hb FAC), one (0.05%) homozygous Hb S (Hb FS), and one (0.05%) Hb Barts suggestive of alpha thalassemia. The results show the need to implement screening for hemoglobinopathies in the neonatal population.

Anemia, Sickle Cell↗
PubMed1955

Abnormal hemoglobins; clinical disorders resulting from various combinations.

Within the past few years it has been noted that abnormal types of hemoglobin found in certain persons are associated with definite clinical disorders. At least four different varieties of sickle cell anemia are now recognized, three of them being heterozygous and one homozygous. When the gene for sickling is represented once, the person is asymptomatic and is said to have "sickle cell trait." However, when the sickle cell trait is present in combination with certain other hemoglobin abnormalities such as hemoglobin C or D or with thalassemia trait, symptomatic clinical disease results. The homozygous condition, in which two genes for hemoglobin C are present in the same person, has been observed in a few instances. A similar condition as regards hemoglobin D has not as yet been recognized.

Anemia↗
PubMedDate not supplied

Analysis of thalassemia syndromes and abnormal hemoglobins in patients from the Aegean region of Turkey.

Turkey is located in a geographic area of the world where thalassemia syndromes and abnormal hemoglobins are common. In this study we aimed to evaluate the thalassemia syndromes and abnormal hemoglobins in patients from the Aegean region of Turkey. Among the patients admitted to our Pediatric Hematology or Hematology Clinic between January 1997-September 1999, hemoglobin electrophoresis of 3,228 cases investigated for anemia was done using high performance liquid chromatography. Beta thalassemia trait was diagnosed in 21.1%, beta thalassemia major in 0.2%, S-beta thalassemia in 0.37%, Hb D in 0.37%, Hb S trait in 0.32%, Hb E in 0.18%, Hb O-Arab in 0.12%, Hb G-Copenhagen in 0.09%, Hb D-Iran in 0.06%, Hb Lepore in 0.06%, Hb Hasharon in 0.03%. Our results demonstrate that people in the Aegean region of Turkey have a wide spectrum of thalassemia syndromes and abnormal hemoglobins.

Child↗
PubMed1980

Distribution of abnormal hemoglobins and glucose-6-phosphate dehydrogenase variants in 1200 school children of Bahia, Brazil.

School children from Bahia, Brazil were studied for hemoglobin and glucose-6-phosphate dehydrogenase electrophoretic variants. Eighty-nine heterozygotes Hb AS and 41 Hb AC were identified out of 1200 children. In a subsample of 369 male children there were 38 Gd A-, 38 Gd A, and six Gd Med. An example of Gd MG was identified and evidence is added to the suggestion that this allele is not rare in Brazil.

Brazil↗
PubMed1979

Improved screening test for abnormal hemoglobins from dried blood samples.

A method is described wherein blood samples taken from adults or newborns and dried on filter paper can be used for hemoglobin analysis within 2 years after sampling. The samples are eluted in 8 M urea in the presence of 5% 2-mercaptoethanol and 2% of the neutral detergent Nonidet P-40. Then the individual alpha, beta, gamma, and epsilon chains are separated by means of electrofocusing in 8 M urea-PAA gels. Up to 96 samples can be applied to a gel using multiple syringes. Several hundred samples can be analyzed daily by one person. This method may be especially useful for preventive programs against sickle cell anemia as well as for human mutation monitoring systems.

Adult↗