Hemoglobin tilburg: α2-ß2 73 (E 17) Asp→Gly

Bernini, L. F.; Giordano, Piero C.

doi:10.1016/0167-4838(88)90284-1

Cited by 15 publications

(2 citation statements)

References 14 publications

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“…Hb Evanston II was studied in two Surinamese families of Asian origin in combination with α-thalassemia [Harteveld et al, in preparation]. Hb Tilburg, a mutant with an anomalous oxygen affinity, was found in a Dutch family [20]. Hb Nijkerk, an unstable mutant causing severe hemolytic anemia, was recently observed as a de novo event in a Dutch girl [Van den Berg et al, in press].…”

Section: Resultsmentioning

confidence: 99%

The Molecular Spectrum of Beta-Thalassemia and Abnormal Hemoglobins in the Allochthonous and Autochthonous Dutch Population

Giordano

Harteveld²,

Heister³

et al. 1998

Public Health Genomics

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The prevalence at birth of hemoglobin defects in the autochthonous North-European population is low. However, the long immigration and colonial history of the Netherlands has resulted in a group of about 1–2 million ‘autochthonous‘ inhabitants, with Asian, South-European or African ancestors, in whom a moderate birth prevalence of globin gene mutations can be expected. Furthermore, at least 10% of the Dutch population consists of recent immigrants from different countries with high birth prevalence of hemoglobinopathies. Because of the endogamous partner choice, which is prevalent in this population, the risk for homozygous progeny remains elevated. At least 100,000 carriers of hemoglobinopathies of recent allochthonous origin are present in the Netherlands, and the number of homozygous children is rising. Prevention by prenatal diagnosis requires a suitable protocol and knowledge about the molecular defects present in the country. Therefore we have analyzed a large number of patients and carriers, both at the hematological and at the DNA level. Our survey revealed 47 different β-thalassemia determinants, characterized on 223 independent chromosomes from individuals of different ethnic origins. As expected, the most prevalent mutations were largely represented. The cd39 (C→T) mutation was found in 70% of the immigrants from Morocco, Sardinia and other Central-West-Mediterranean regions while the IVS-I-110 (G→A) was prevalent in the East-Mediterranean populations. The IVS-I-5 (G→C) mutation was found in 45% of the patients of Indonesian origin. We also registered 308 independent chromosomes with common structural defects (HbS, HbC, HbE, Hb Lepore, Hb Constant Spring and HbD Punjab) and 33 chromosomes with 19 different, less frequent, rare or very rare mutants. Seven structural mutants were described for the first time and published separately. Furthermore, 139 independent chromosomes with deletional and nondeletional α-thalassemia defects were characterized.

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Section: Resultsmentioning

confidence: 99%

The Molecular Spectrum of Beta-Thalassemia and Abnormal Hemoglobins in the Allochthonous and Autochthonous Dutch Population

Giordano

Harteveld²,

Heister³

et al. 1998

Public Health Genomics

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“…The temperature dependence of quadrupole splitting of normal A and abnormal haemoglobins in deoxy-form has also been reported elsewhere. 324,325 The iron core structure in ferritin and haemosiderin proteins of patients with haemoglobinopathies was studied by several researchers. [326][327][328][329] MS studies of liver haemosiderin from patients with primary idiopathic haemochromatosis (PH) and with secondary haemochromatosis (SH) caused by b-thalassemia treated by multiple transfusions were found in two different states of the iron core: superparamagnetic and magnetic at 4 .…”

Section: Biological Samplesmentioning

confidence: 99%

Study of materials using Mössbauer spectroscopy

Bandyopadhyay¹

2006

International Materials Reviews

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A comprehensive review is presented of the recent contributions Mo ¨ssbauer spectroscopy has made in materials science and engineering. After a brief introduction to the basic methodology, examples of the application of 57 Fe and 119 Sn Mo ¨ssbauer spectroscopy in both transmission and back-scattering mode are presented and discussed. Recent technological and software developments of this technique are also included. Coverage is further extended to recent, pertinent developments in space research and also in biological science and technology where Mo ¨ssbauer techniques are very widely used. Efforts have also been made to cover applications to archaeological samples where Mo ¨ssbauer spectroscopy is an important analytical tool.

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Hb Nishinomiya [Leu-Gly-Inserted between Codons 69(E13) and 70(E14) of β: A Novel Unstable Hemoglobin with Reduced Oxygen Affinity Found in a Patient with Spherocytic Hemolysis

et al. 2002

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Substantially decreased oxygen saturation levels were incidentally detected by pulseoxymetry in a patient with spherocytic hemolysis who was undergoing laparoscopic splenectomy. Molecular analysis revealed that he was carrying hemoglobin (Hb) Nishinomiya, a novel Hb variant [Leu-Gly-inserted between codons 69(E13) and 70(E14) of beta]. Amino acid substitutions around positions 70-73(E13-17) of the beta chain are likely to change stability and oxygen affinity, as has been demonstrated in several Hb variants including Hb Seattle. The apparent substitution of the amino acid residues in the heme pocket of the beta chain explains the decreased stability and oxygen affinity of Hb Nishinomiya.

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Hemoglobin tilburg: α2-ß2 73 (E 17) Asp→Gly

Cited by 15 publications

References 14 publications

The Molecular Spectrum of Beta-Thalassemia and Abnormal Hemoglobins in the Allochthonous and Autochthonous Dutch Population

The Molecular Spectrum of Beta-Thalassemia and Abnormal Hemoglobins in the Allochthonous and Autochthonous Dutch Population

Study of materials using Mössbauer spectroscopy

Hb Nishinomiya [Leu-Gly-Inserted between Codons 69(E13) and 70(E14) of β: A Novel Unstable Hemoglobin with Reduced Oxygen Affinity Found in a Patient with Spherocytic Hemolysis

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