β-Thalassemia in Association with a New δ-Chain Hemoglobin Variant [δ116(G18)Arg→Leu]: Implications for Carrier Screening and Prenatal Diagnosis

American Journal of Hematology

Volumn 74, Issue 3, 2003, Pages 179-181

  Waye, John S ^a,b   Patterson, Margaret ^a   Walker, Lynda ^a   Eng, Barry ^a   Nakamura, Lisa M ^b   Lafferty, John D ^a   Yong, Sui Li ^c   Wu, John K ^c   Chui, David H K ^a,b  

^a MCMASTER UNIVERSITY MEDICAL CENTRE   (Canada)

^b MCMASTER UNIVERSITY   (Canada)

^c BC CHILDREN S HOSPITAL   (Canada)

Author keywords

thalassemia; Carrier screening; Genetic risks; Pregnancy

Indexed keywords

ARGININE; HEMOGLOBIN; HEMOGLOBIN DELTA CHAIN; HEMOGLOBIN E; HEMOGLOBIN H; LEUCINE; UNCLASSIFIED DRUG;

ADULT; ARTICLE; BETA THALASSEMIA; CASE REPORT; DISEASE CARRIER; ELECTROPHORESIS; FEMALE; FETUS HYDROPS; GENE DELETION; GENE MUTATION; GENETIC COUNSELING; GENETIC RISK; HEMOGLOBIN BART; HEMOGLOBIN LEPORE; HEMOGLOBINOPATHY; HETEROZYGOSITY; HUMAN; INDIAN; MALE; MISSENSE MUTATION; PREGNANCY; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SEQUENCE ANALYSIS;

ABORTION, SPONTANEOUS; ADULT; BETA-THALASSEMIA; DIAGNOSTIC ERRORS; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; HEMOGLOBIN E; HEMOGLOBINS, ABNORMAL; HETEROZYGOTE DETECTION; HUMANS; INDIA; MALE; MUTATION, MISSENSE; PREGNANCY; PREGNANCY COMPLICATIONS, HEMATOLOGIC; PRENATAL DIAGNOSIS; VARIATION (GENETICS);

EID: 0242298657     PISSN: 03618609     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajh.10423     Document Type: Article

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