Hemoglobin Mississippi (beta 44ser----cys). Studies of the thalassemic phenotype in a mixed heterozygote with beta +-thalassemia.

Steinberg, Martin H.; Adams, Joel C.; Morrison, W T; Pullen, DJ; Abney, R; Ibrahim, Adel; Rieder, Ronald F.

doi:10.1172/jci112890

Cited by 7 publications

(1 citation statement)

References 41 publications

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“…HbMS in the heterozygous form was clinically and hematologically normal and had mild microcytic anemia, but in compound heterozygous with β + -thalassemia showed all features of thalassemia intermedia. 9 Accordingly, HbNL was clinically and hematologically normal with mild microcytic anemia, but according to the ACMG guideline, it cannot be assumed to be pathogenic.…”

Section: Discussionmentioning

confidence: 99%

Hb Narges Lab, a Novel Hemoglobin Variant of the β-Globin Gene

et al. 2022

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In this study, we describe a new missense variant on the β-globin gene in a heterozygous form in a female individual. Standard methods were used to determine red blood cell indices and perform hemoglobin analyses. Molecular studies were performed on the genomic DNA isolated from peripheral blood cells. Beta-globin genes were amplified and sequenced. We report a novel mutation on the β-globin gene (HBB), c.134 C>T; p.S44F variant, in the heterozygote state which was detected in a female of Persian ethnic origin in the Khuzestan province, southern Iran, that we named Hb Narges Lab (HbNL) variant. This mutation was predicted to be disease-causing in all except one in silico prediction tools. This variant was reported for the first time worldwide, had no shown hematological abnormalities but should be considered when inherited in the compound heterozygous form with β- thalassemia (β0-thal) carrier, which might result in the phenotype of thalassemia intermedia.

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Section: Discussionmentioning

confidence: 99%

Hb Narges Lab, a Novel Hemoglobin Variant of the β-Globin Gene

et al. 2022

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References

2001

The Thalassaemia Syndromes

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Hemoglobin Hakkari: An autosomal dominant form of beta thalassemia with inclusion bodies arising from de novo mutation in exon 2 of beta globin gene

Kanathezhath¹,

Hazard

Guo³

et al. 2009

Pediatric Blood & Cancer

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Certain beta globin gene mutations produce a thalassemia major phenotype in the heterozygous state. While most such patients have thalassemia intermedia, we describe a young Guatemalan child with a de novo mutation in the beta globin gene, codon 31 T --> G (Hemoglobin Hakkari), who developed severe anemia at the age of 10 months and remains transfusion-dependent. The substitution of B13 leucine with arginine in the beta globin results in alteration of a critical heme contact point resulting in an extremely unstable variant hemoglobin and a clinical picture that is characterized by ineffective erythropoiesis and numerous intracytoplasmic inclusions within the erythrocyte precursors of the bone marrow. .

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Hemoglobin Mississippi (beta 44ser----cys). Studies of the thalassemic phenotype in a mixed heterozygote with beta +-thalassemia.

Cited by 7 publications

References 41 publications

Hb Narges Lab, a Novel Hemoglobin Variant of the β-Globin Gene

Hb Narges Lab, a Novel Hemoglobin Variant of the β-Globin Gene

References

Hemoglobin Hakkari: An autosomal dominant form of beta thalassemia with inclusion bodies arising from de novo mutation in exon 2 of beta globin gene

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