Diversity in clinical presentation of hemoglobin H disease induced by the SEA deletion and the hemoglobin Quong Sze

Annals of Hematology

Volumn 88, Issue 11, 2009, Pages 1145-1147

  Liao, Can ^a   Li, Jian ^a   Xie, Xing Mei ^a   Zhou, Jian Ying ^a   Li, Dong Zhi ^a  

^a GUANGZHOU MATERNAL AND NEONATAL HOSPITAL   (China)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ALPHA 2 MACROGLOBULIN; ALPHA GLOBIN; GLUTAMIC ACID; HEMOGLOBIN QUONG SZE; HEMOGLOBIN VARIANT; SERINE; UNCLASSIFIED DRUG; BETA GLOBIN;

ABNORMAL LABORATORY RESULT; ADULT; AMNIOCENTESIS; ANEMIA; ASCITES; BLOOD TRANSFUSION; CARDIOMEGALY; CASE REPORT; CHILD; CORDOCENTESIS; ELECTROPHORESIS; FEMALE; FETUS DISEASE; FETUS HYDROPS; GENE DELETION; GENE SEQUENCE; GENETIC COUNSELING; GENOTYPE; GLOBIN GENE; HEMOGLOBIN H DISEASE; HEPATOSPLENOMEGALY; HEREDITARY HEMOLYTIC ANEMIA; HETEROZYGOTE DETECTION; HUMAN; LETTER; MALE; MISSENSE MUTATION; PERICARDIAL EFFUSION; PLACENTA DISORDER; PREGNANCY TERMINATION; PRESCHOOL CHILD; PRIORITY JOURNAL; THALASSEMIA; ALPHA THALASSEMIA; CHINA; GENETIC VARIABILITY; GENETICS; HETEROZYGOTE; PATHOLOGY; PHENOTYPE; POINT MUTATION; PREGNANCY; PREGNANCY COMPLICATION; PRENATAL DIAGNOSIS;

ADULT; ALPHA-GLOBINS; ALPHA-THALASSEMIA; BETA-GLOBINS; CHILD, PRESCHOOL; CHINA; FEMALE; GENE DELETION; GENETIC VARIATION; HEMOGLOBINS, ABNORMAL; HETEROZYGOTE; HUMANS; HYDROPS FETALIS; MALE; MUTATION, MISSENSE; PHENOTYPE; POINT MUTATION; PREGNANCY; PREGNANCY COMPLICATIONS, HEMATOLOGIC; PRENATAL DIAGNOSIS;

EID: 70349431569     PISSN: 09395555     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00277-009-0716-8     Document Type: Letter

References (7)

1. Chan AY, So CC, Ma ES, Chan LC (2007) A laboratory strategy for genotyping haemoglobin H disease in the Chinese. J Clin Pathol 60:931-934. doi: 10.1136/jcp.2006.042242
2. Chen FE, Ooi C, Ha SY, Cheung BM, Todd D, Liang R, Chan TK, Chan V (2000) Genetic and clinical features of hemoglobin H disease in Chinese patients. N Engl J Med 343:544-550. doi: 10.1056/NEJM200008243430804
3. Ma ES, Chow EY, Chan AY, Chan LC (2001) Interaction between (--SEA) alpha-thalassemia deletion and uncommon non-deletional alpha-globin gene mutations in Chinese patients. Haematologica 86:539-540
4. Li DZ, Liao C, Li J, Xie XM, Huang YN, Wu QC (2005) Hemoglobin H hydrops fetalis syndrome resulting from the association of the --SEA deletion and the αQuong Szeα mutation in a Chinese woman. Eur J Haematol 75:259-261. doi: 10.1111/j.1600-0609.2005.00493.x
5. 125Leu→Pro is a novel cause of α-thalassaemia. Nature 296:864-865. doi: 10.1038/296864a0
6. Liang S, Wen XJ, Lin WX (1991) Detection of the Hb Quong Sze mutation in a Chinese family by selective amplification of the α2-globin gene and restriction map analysis with MspI. Hemoglobin 15:535-540. doi: 10.3109/03630269109027901
7. Sura T, Trachoo O, Viprakasit V, Vathesatogkit P, Tunteeratum A, Busabaratana M, Wisedpanichkij R, Isarangkura P (2007) Hemoglobin H disease induced by the common SEA deletion and the rare hemoglobin Quong Sze in a Thai female: Longitudinal clinical course, molecular characterization, and development of a PCR/RFLP-based detection method. Ann Hematol 86:659-663. doi: 10.1007/s00277-007-0303-9