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[A rare thalassemia intermedia case caused by co-existence of Hb H disease (--(SEA)/-alpha(4.2)) and beta-thalassemia major (beta (CD17A)>T/beta (IVS2-654C)>T): implications for prenatal diagnosis].

Abstract

OBJECTIVE

To analyze the relation between the genotype and phenotype in a Chinese patient with thalassemia intermedia and its implications for prenatal diagnosis and genetic counseling of thalassemia intermedia caused by co-existence of Hb H disease and beta; thalassemia major.

METHODS

Phenotypic analysis was performed using standard hematological tests to measure red blood cell parameters and Hb concentration. Genotyping of beta thalassemia mutations and alpha thalassemia deletion were conducted using reverse dot-blot (RDB) assay and gap-PCR, respectively. We investigated the pathogenesis of this case by genotype-phenotype correlation analysis based on screening of the patient's family members. Prenatal diagnosis for a high-risk fetus in this family was performed by amniotic fluid DNA analysis.

RESULTS

The proband was identified as a patient with severe thalassemia intermedia caused by co-existence of Hb H disease (--(SEA)/-alpha (4.2)) and beta-thalassemia major (beta (CD17A)>T/beta (IVS2-654C)>T), whose father was heterozygous for beta thalassemia (beta (CD17A)>T/beta (N)) and alpha-thalassemia trait (--(SEA)/) and the heterozygous for beta thalassemia (beta (IVS2-654C)>T / beta (N)) and silent alpha-thalassemia (-alpha (4.2)/). The result of prenatal diagnosis showed co-existence of beta thalassemia major and silent alpha thalassemia in the high-risk fetus, and the parents requested termination of pregnancy after genetic counseling.

CONCLUSION

We report for the first time a rare thalassemia intermedia case resulting from 4 complex alpha/beta thalassemia combination and the molecular pathogenesis of thalassemia intermedia is updated in the Chinese population. The practice of prenatal diagnosis in this case may also provide reference for diagnosis of similar cases.

Authors+Show Affiliations

Department of Medical Genetics, School of Basic Medical Sciences and Technology Center for Prenatal Diagnosis and DNA Testing of Genetic Disorders of Nanfang Hospital, Guangzhou 510515, China. liq@fimmu.comNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
English Abstract
Journal Article
Research Support, Non-U.S. Gov't

Language

chi

PubMed ID

18227017

Citation

Li, Qiang, et al. "[A Rare Thalassemia Intermedia Case Caused By Co-existence of Hb H Disease (--(SEA)/-alpha(4.2)) and Beta-thalassemia Major (beta (CD17A)>T/beta (IVS2-654C)>T): Implications for Prenatal Diagnosis]." Nan Fang Yi Ke Da Xue Xue Bao = Journal of Southern Medical University, vol. 28, no. 1, 2008, pp. 16-9.
Li Q, Li LY, Mo QH. [A rare thalassemia intermedia case caused by co-existence of Hb H disease (--(SEA)/-alpha(4.2)) and beta-thalassemia major (beta (CD17A)>T/beta (IVS2-654C)>T): implications for prenatal diagnosis]. Nan Fang Yi Ke Da Xue Xue Bao. 2008;28(1):16-9.
Li, Q., Li, L. Y., & Mo, Q. H. (2008). [A rare thalassemia intermedia case caused by co-existence of Hb H disease (--(SEA)/-alpha(4.2)) and beta-thalassemia major (beta (CD17A)>T/beta (IVS2-654C)>T): implications for prenatal diagnosis]. Nan Fang Yi Ke Da Xue Xue Bao = Journal of Southern Medical University, 28(1), pp. 16-9.
Li Q, Li LY, Mo QH. [A Rare Thalassemia Intermedia Case Caused By Co-existence of Hb H Disease (--(SEA)/-alpha(4.2)) and Beta-thalassemia Major (beta (CD17A)>T/beta (IVS2-654C)>T): Implications for Prenatal Diagnosis]. Nan Fang Yi Ke Da Xue Xue Bao. 2008;28(1):16-9. PubMed PMID: 18227017.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [A rare thalassemia intermedia case caused by co-existence of Hb H disease (--(SEA)/-alpha(4.2)) and beta-thalassemia major (beta (CD17A)>T/beta (IVS2-654C)>T): implications for prenatal diagnosis]. AU - Li,Qiang, AU - Li,Li-Yan, AU - Mo,Qiu-Hua, PY - 2008/1/30/pubmed PY - 2009/4/14/medline PY - 2008/1/30/entrez SP - 16 EP - 9 JF - Nan fang yi ke da xue xue bao = Journal of Southern Medical University JO - Nan Fang Yi Ke Da Xue Xue Bao VL - 28 IS - 1 N2 - OBJECTIVE: To analyze the relation between the genotype and phenotype in a Chinese patient with thalassemia intermedia and its implications for prenatal diagnosis and genetic counseling of thalassemia intermedia caused by co-existence of Hb H disease and beta; thalassemia major. METHODS: Phenotypic analysis was performed using standard hematological tests to measure red blood cell parameters and Hb concentration. Genotyping of beta thalassemia mutations and alpha thalassemia deletion were conducted using reverse dot-blot (RDB) assay and gap-PCR, respectively. We investigated the pathogenesis of this case by genotype-phenotype correlation analysis based on screening of the patient's family members. Prenatal diagnosis for a high-risk fetus in this family was performed by amniotic fluid DNA analysis. RESULTS: The proband was identified as a patient with severe thalassemia intermedia caused by co-existence of Hb H disease (--(SEA)/-alpha (4.2)) and beta-thalassemia major (beta (CD17A)>T/beta (IVS2-654C)>T), whose father was heterozygous for beta thalassemia (beta (CD17A)>T/beta (N)) and alpha-thalassemia trait (--(SEA)/) and the heterozygous for beta thalassemia (beta (IVS2-654C)>T / beta (N)) and silent alpha-thalassemia (-alpha (4.2)/). The result of prenatal diagnosis showed co-existence of beta thalassemia major and silent alpha thalassemia in the high-risk fetus, and the parents requested termination of pregnancy after genetic counseling. CONCLUSION: We report for the first time a rare thalassemia intermedia case resulting from 4 complex alpha/beta thalassemia combination and the molecular pathogenesis of thalassemia intermedia is updated in the Chinese population. The practice of prenatal diagnosis in this case may also provide reference for diagnosis of similar cases. SN - 1673-4254 UR - https://www.unboundmedicine.com/medline/citation/18227017/[A_rare_thalassemia_intermedia_case_caused_by_co_existence_of_Hb_H_disease_____SEA_/_alpha_4_2___and_beta_thalassemia_major__beta__CD17A_>T/beta__IVS2_654C_>T_:_implications_for_prenatal_diagnosis]_ L2 - http://www.diseaseinfosearch.org/result/814 DB - PRIME DP - Unbound Medicine ER -