IthaID: 1405



Names and Sequences

Functionality: Globin gene causative mutation
Common Name: N/A HGVS Name: N/A
Hb Name: Hb P-Nilotic Protein Info: βδ hybrid (β through 31; δ from 50)

Also known as: Hb Anti-Lepore P-Nilotic

Comments: Anti-Lepore βδ hybrid. β

External Links

Location

Chromosome: 11
Locus: NG_000007.3
Locus Location: N/A
Size: N/A
Located at: δ, β

Phenotype

Hemoglobinopathy Group: Structural Haemoglobinopathy
Hemoglobinopathy Subgroup: δ-chain variant
Allele Phenotype:δβ fusion
Stability: N/A
Oxygen Affinity: Increased Oxygen Affinity
Associated Phenotypes: N/A

Other details

Type of Mutation: Duplication
Ethnic Origin: Nubian, Mexican-American, Turkish, Sudanese
Inheritance: Recessive
DNA Sequence Determined: No
Detection Methods: Direct DNA sequencing

Sequence Viewer

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Publications / Origin

  1. Moo-Penn WF, Bechtel KC, Therrell BL, Hemoglobin P Nilotic in a Mexican-American family., Hemoglobin , 2(1), 65-9, 1978 PubMed
  2. Raybourne SR, Stallings MB, Gravely ME, Huisman TH, Oxygen equilibrium analyses of isolated hemoglobins A2, Lepore-Washington and P-nilotic., Biochim. Biophys. Acta , 535(1), 78-84, 1978 PubMed
  3. Abu-Sin A, Felice AE, Gravely ME, Wilson JB, Reese AL, Miller HL, Huisman TH, Hb P-Nilotic in association with beta0-thalassemia: cis-mutation of a hemoglobin betaA chain regulatory determinant?, J. Lab. Clin. Med. , 93(6), 973-82, 1979 PubMed
  4. Liu JZ, Harano T, Lanclos KD, Huisman TH, The beta-delta crossover leading to the beta delta hybrid gene of hemoglobin P-Nilotic is located within 54 base-pairs of the 5' end of exon 2 or between codons 31 and 50., Biochimica et biophysica acta, 909(3), 208-12, 1987 PubMed
  5. Altay C, Kutlar A, Wilson JB, Webber BB, Huisman TH, Hb P-Nilotic or alpha 2(beta delta)2 in a Turkish family., Hemoglobin , 11(4), 395-9, 1987 PubMed
Created on 2010-06-16 16:13:17, Last reviewed on 2015-12-07 16:15:29 (Show full history)

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