Beta thalassemia IVS-I-5(G-->C) heterozygosity masked by the presence of HbJ-Meerut in a Dutch-Indian patient.
| Autoři: | Giordano PC; Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. p.c.giordano@lumc.nl, Maatman RG, Niessen RW, van Delft P, Harteveld CL |
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| Zdroj: | Haematologica [Haematologica] 2006 Dec; Vol. 91 (12 Suppl), pp. ECR56. |
| Způsob vydávání: | Case Reports; Journal Article |
| Jazyk: | English |
| Informace o časopise: | Publisher: Ferrata Storti Foundation Country of Publication: Italy NLM ID: 0417435 Publication Model: Print Cited Medium: Internet ISSN: 1592-8721 (Electronic) Linking ISSN: 03906078 NLM ISO Abbreviation: Haematologica Subsets: MEDLINE |
| Imprint Name(s): | Publication: 1999- : Pavia, Italy : Ferrata Storti Foundation Original Publication: Pavia [etc.] |
| Výrazy ze slovníku MeSH: | Globins/*genetics , Hemoglobin A2/*analysis , Hemoglobin J/*analysis , Hemoglobinometry/*methods , beta-Thalassemia/*diagnosis, Adult ; Blood Protein Electrophoresis ; Chromatography, High Pressure Liquid ; False Negative Reactions ; Female ; Hemoglobin A2/chemistry ; Hemoglobin A2/isolation & purification ; Hemoglobin J/chemistry ; Hemoglobin J/genetics ; Heterozygote ; Humans ; India/ethnology ; Netherlands ; Phenotype ; beta-Thalassemia/blood ; beta-Thalassemia/genetics |
| Abstrakt: | We describe the genotype/phenotype correlation in a 35 year old anemic female referred to our laboratory because a fast eluting minor fraction on HPLC, mild hemolysis and hematological parameters suggesting a Thalassemia trait, eventually in combination with iron depletion. Direct sequencing of the alpha globin genes revealed heterozygosity for HbJ-Meerut, a Glu-->Ala substitution at residue 120 not justifying the hematological parameters. No other point mutations were found on the alpha genes and Gap-PCR excluded the 6 common deletion defects. Direct sequencing of the beta-globin genes revealed the IVS-I-5 (G-->C) transversion in absence of the elevated HbA2 levels usually measured in carriers of this beta-Thalassemia mutation. The HbA2 tetramer in the presence of HbJ-Meerut divides in two parts. One alphaN2/delta2 migrating on the right spot on HPLC. The other alphaJ2/delta2 migrating under the HbA fraction. Classic alkaline electrophoresis and the modern capillary electrophoresis CE showed these two tetramers and the reduction of the elevated HbA2 level of the beta-Thalassemia trait by at least 20% due to HbA2 Meerut. |
| Substance Nomenclature: | 52337-03-8 (hemoglobin J Meerut) 58128-48-6 (Hemoglobin J) 9004-22-2 (Globins) 9034-53-1 (Hemoglobin A2) |
| Entry Date(s): | Date Created: 20061230 Date Completed: 20071129 Latest Revision: 20061229 |
| Update Code: | 20240829 |
| PMID: | 17194662 |
| Autor: | Giordano PC; Hemoglobinopathies Laboratory, Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. p.c.giordano@lumc.nl, Maatman RG, Niessen RW, van Delft P, Harteveld CL |
| Jazyk: | angličtina |
| Zdroj: | Haematologica [Haematologica] 2006 Dec; Vol. 91 (12 Suppl), pp. ECR56. |
| Abstrakt: | We describe the genotype/phenotype correlation in a 35 year old anemic female referred to our laboratory because a fast eluting minor fraction on HPLC, mild hemolysis and hematological parameters suggesting a Thalassemia trait, eventually in combination with iron depletion. Direct sequencing of the alpha globin genes revealed heterozygosity for HbJ-Meerut, a Glu-->Ala substitution at residue 120 not justifying the hematological parameters. No other point mutations were found on the alpha genes and Gap-PCR excluded the 6 common deletion defects. Direct sequencing of the beta-globin genes revealed the IVS-I-5 (G-->C) transversion in absence of the elevated HbA2 levels usually measured in carriers of this beta-Thalassemia mutation. The HbA2 tetramer in the presence of HbJ-Meerut divides in two parts. One alphaN2/delta2 migrating on the right spot on HPLC. The other alphaJ2/delta2 migrating under the HbA fraction. Classic alkaline electrophoresis and the modern capillary electrophoresis CE showed these two tetramers and the reduction of the elevated HbA2 level of the beta-Thalassemia trait by at least 20% due to HbA2 Meerut. |
| Databáze: | MEDLINE |
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