Unstable Hb Perth in a Taiwanese subject: A T → C substitution at codon 32 of the β-globin gene creates an MspI site

Hemoglobin

Volumn 26, Issue 1, 2002, Pages 91-94

  Chang, Jan Gowth ^a   Liu, Hsi Che ^b   Shih, Mu Chin ^a   Liu, Su Ching ^a   Chan, Wen Ling ^a   Tsai, Fuu Jen ^a  

^a CHINA MEDICAL UNIVERSITY HOSPITAL   (Taiwan)

^b MACKAY MEMORIAL HOSPITAL   (Taiwan)

Author keywords

[No Author keywords available]

Indexed keywords

BETA GLOBIN; HEMOGLOBIN VARIANT; UNCLASSIFIED DRUG;

ANAMNESIS; ARTICLE; CASE REPORT; CODON; GENE MUTATION; GENE SEQUENCE; HEMOGLOBIN PERTH; HEMOGLOBINOPATHY; HUMAN; NUCLEIC ACID BASE SUBSTITUTION; POLYMERASE CHAIN REACTION; PRESCHOOL CHILD; TAIWAN;

AMINO ACID SUBSTITUTION; CHILD; CODON; DEOXYRIBONUCLEASE HPAII; GLOBINS; HEMOGLOBINS, ABNORMAL; HUMANS; MALE; MUTATION, MISSENSE; POINT MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PROTEIN DENATURATION; TAIWAN;

EID: 0036203437     PISSN: 03630269     EISSN: None     Source Type: Journal    
DOI: 10.1081/HEM-120002947     Document Type: Article

References (8)

1. Hemoglobin Abraham Lincoln, β32 (B14) Leucine → Proline
2. Haemoglobin Perth: β32 (B14) Leu → Pro, an unstable haemoglobin causing haemolysis
3. Congenital heinz body haemolytic anaemia due to Haemoglobin Perth in a Nama child seemingly aggravated by the high nitrate content of the water supply
4. A severe hemolytic anemia related to a new case of Hemoglobin Perth (Abraham Lincoln) in a French patient
5. Severe hemolytic anemia, caused by carriage of anomalous unstable Hemoglobin Perth-Abraham Lincoln β32 (B14) Leu → Pro in a male patient of Russian nationality
6. Cases of abnormal human hemoglobin produced by de novo mutation
7. Hb Siriraj: A G → A substitution at codon 7 of the β-globin chain creates an MboII cutting site
8. Hemoglobin Castilla β32 (B14) Leu → Arg: A new unstable variant producing severe hemolytic disease