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Another Hb with inclusion bodies β-thalassemia, owing to Hb Durham-N.C. [β114(G16) Leu > Pro]. First case described in Hispanic populations.

Annals of hematology - 1 May 2012

Ropero Paloma, Córdoba Raúl, Morado Marta, González Fernando Ataulfo, Villegas Ana

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Share to Amino Acid Substitution
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PMID: 21845419
DOI: 10.1007/s00277-011-1310-4

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Click a neighbor to travelStep 1 · 12 closest

Another Hb with inclusion bodies β-thalassemia, owing to Hb Durham-N.C. [β114(G16) Leu > Pro]. First case described in Hispanic populations.PMID 21845419Read ↗

A Korean family with a dominantly inherited beta-thalassemia due to Hb Durham-N.C./Brescia.Semantic proximity Read ↗

A second case of Hb Renert [beta133(H11)Val --> Ala].Semantic proximity Read ↗

Hb Castilla [beta32(B14)Leu --> Arg] caused by a de novo mutation.Semantic proximity Read ↗

The Dutch IVS-I-116 (A --> G) (alpha2) thalassemia mutation induces Hb H inclusion bodies when found in combination with the -alpha3.7 deletion defect.Semantic proximity Read ↗

Coinheritance of a novel mutation on the HBA1 gene: c.187delG (p.W62fsX66) [codon 62 (-G) (α1)] with the α212 patchwork allele and Hb S [β6(A3)Glu→Val, GAG>GTG; HBB: c.20A>T].Semantic proximity Read ↗

Hemoglobin Chesterfield (beta 28 Leu----Arg) produces the phenotype of inclusion body beta thalassemia.Semantic proximity Read ↗

Hb Brockton [alpha 2 beta 2(138)(H16)Ala-->Pro] observed in a Spanish girl.Semantic proximity Read ↗

Hb Brockton [beta138(H16)Ala-->Pro] observed in a Chinese boy.Semantic proximity Read ↗

Two unrelated cases of Hb Old Dominion/Burton-upon-Trent [beta143(H21)His-->Tyr]: a rare variant causing spuriously elevated Hb A1c values.Semantic proximity Read ↗

Hb Buzen [beta138(H16)Ala --> Thr (g.1395 G -->A)]: a new beta chain variant.Semantic proximity Read ↗

Hb Niigata [beta1(NA1)Val-->Leu] in a Romanian individual resulting from another nucleotide substitution than that found in the Japanese.Semantic proximity Read ↗

Hb Bab-Saadoun or alpha 2 beta (2)48(CD7)Leu----Pro, a mildly unstable variant found in an Arabian boy from Tunisia.Semantic proximity Read ↗

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