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Hb Cervantes, Hb Marañón, Hb La Mancha and Hb Goya: Description of 4 new haemoglobinopathies

Clinical Biochemistry, 2015
α-thalassemias are caused by a deficiency in or absence of synthesis of the α-chain of haemoglobin (Hb). In contrast, structural haemoglobinopathies are due to mutations that change the amino acid sequence of the protein chain. We report 4 newly identified α-chain Hb variants.
Félix de la Fuente-Gonzalo   +8 more
openaire   +2 more sources

Higher oxygen affinity of sheep Hb C compared to Hb A and Hb B

Experientia, 1980
Sheep which have Hb A, synthesize the perinatal Hb C in response to severe tissue hypoxia. It is known that Hb A displays a higher oxygen affinity than Hb B. The results of this study indicate that Hb C exhibits an oxygen affinity and a Bohr effect higher than those of Hb A and Hb B.
A M, Vaccaro-Torracca   +2 more
openaire   +2 more sources

Analysis of Deletional Hb H Diseases in Samples with Hb A2-Hb H and Hb A2-Hb Bart’s on Capillary Electrophoresis

Hemoglobin, 2019
The capillary electrophoresis (CE) system allows the quantification of Hb Bart's (γ4) and Hb H (β4) that is used for screening of Hb H disease. However, Hb Bart's hydrops fetalis and Hb H are not always codetected in patients with Hb H disease. In this study, 35 samples were analyzed for the α0-thalassemia (α0-thal) [- -SEA (Southeast Asian) and ...
Kunyakan, Khongthai   +3 more
openaire   +2 more sources

Why the DNA self-depurination mechanism operates in HB-β but not in β-globin paralogs HB-δ, HB-ɛ1, HB-γ1 and HB-γ2

Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, 2015
The human β-globin, δ-globin and ɛ-globin genes contain almost identical coding strand sequences centered about codon 6 having potential to form a stem-loop with a 5'GAGG loop. Provided with a sufficiently stable stem, such a structure can self-catalyze depurination of the loop 5'G residue, leading to a potential mutation hotspot. Previously, we showed
Olga, Amosova   +2 more
openaire   +2 more sources

Characterization of chromosomes with hybrid genes for Hb Lepore-Washington, Hb Lepore-Baltimore, Hb P-Nilotic, and Hb Kenya

Human Genetics, 1987
This study concerns the characterization of chromosomes with hybrid genes for Hb Lepore-Washington (44 chromosomes), for Hb Lepore-Baltimore (5 chromosomes), for Hb P-Nilotic (8 chromosomes), and for Hb Kenya (7 chromosomes) by determining a relatively large number of restriction enzyme polymorphism.
Lanclos, KD   +8 more
openaire   +2 more sources

Compound heterozygote states for Hb C/Hb Malay and Hb C/Hb E in pregnancy: A molecular and hematological analysis

Blood Cells, Molecules, and Diseases, 2005
Hemoglobin (Hb) C (alpha2beta(2)6Glu-Lys) is a variant Hb found mainly in West Africa where individuals carrying both Hb C and Hb S (alpha2beta(2)6Glu-Val) usually have a disease similar to sickle cell disease. The Hb C molecule has reduced solubility leading to crystal formation and hemolytic anemia.
Supan, Fucharoen   +3 more
openaire   +2 more sources

Molecular and haematological characterization of compound Hb E/Hb Pyrgos and Hb E/Hb J-Bangkok in Thai patients

Clinical and Laboratory Haematology, 2005
We describe haematological and DNA characterization of haemoglobinopathies in Thai adolescents caused by compound heterozygosities for Hb E [beta26(B8) Glu-Lys] and two other beta-globin chain variants, Hb Pyrgos [beta83(EF7) Gly-Asp] and Hb J Bangkok [beta56(D7) Gly-Asp].
S, Fucharoen   +3 more
openaire   +2 more sources

Identical Substitution in Hb Ube-1 and Hb Köln

Nature New Biology, 1973
HAEMOGLOBIN Ube-1 was discovered by Shibata et al.1 in a Japanese girl with typical stigmata of congenital Heinz body haemolytic anaemia (CHBHA). As the sulphydryl function of β93 cysteinyl residue, which is normally demonstrable by PMB in native state, was not titrable in this abnormal haemoglobin, it was tentatively formulated as αA2 β93(SX)2 ...
Y, Ohba, T, Miyaji, S, Shibata
openaire   +2 more sources

The Combination of HB S and HB E in a Black Female

Hemoglobin, 1976
(1976). The Combination of HB S and HB E in a Black Female. Hemoglobin: Vol. 1, No. 1, pp. 100-102.
C, Altay, G A, Niazi, T H, Huisman
openaire   +2 more sources

Association of Hb Toulouse with Hb S in a Nicaraguan Girl

Hemoglobin, 1987
Chez une petite fille de 7 ans souffrant de douleurs articulaires et d'une anemie hemolytique bien compensee. C'est le 1er cas rapporte avec cette association, observation montrant que l'HbI-Toulouse n'interfere pas avec l'HbS pour produire une anemie hemolytique ...
M, Tejuca   +5 more
openaire   +2 more sources

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