Hemoglobin. 2010;34(5):505-8.

Severe β-thalassemia intermedia in a compound heterozygous patient for the -30 (T>A) β(+)-thalassemia mutation and the δ(0)β(+)-Senegalese deletion.

Griffon C, Joly P, Sénéchal A, Philit F, Francina A.

Source

Molecular Pathology Unit, Department of Biochemistry, Edouard Herriot University Hospital, Lyon, France.

Abstract

We report the clinical and biochemical studies of a patient initially diagnosed with β-thalassemia intermedia (β-TI), which, with age, has progressed to a severe transfusion-dependent form. The patient is a compound heterozygote for the -30 (T>A) β(+)-thalassemia (β(+)-thal) mutation and the rare δ(0)β(+)-Senegalese deletion. Many complications are reported as well as the specific treatments initiated.

PMID:: 20854126; [PubMed - indexed for MEDLINE]

Publication Types, MeSH Terms, Substances

Publication Types

Case Reports

MeSH Terms

Substances

LinkOut - more resources

Full Text Sources

Medical

Thalassemia - MedlinePlus Health Information

Supplemental Content

Save items

Related citations in PubMed

Molecular mechanisms underlying thalassemia intermedia in Iran. [Genet Test. 2008]
Molecular mechanisms underlying thalassemia intermedia in Iran.
Neishabury M, Azarkeivan A, Oberkanins C, Esteghamat F, Amirizadeh N, Najmabadi H. Genet Test. 2008 Dec; 12(4):549-56.
Molecular characterization of a Chinese pedigree with beta-thalassemia intermedia. [Hemoglobin. 2010]
Molecular characterization of a Chinese pedigree with beta-thalassemia intermedia.
Huang G, Jiang WL, Rong KB, Li YX, Luo XL, Meng JX, Yu XY. Hemoglobin. 2010 Jan; 34(2):179-83.
Identification of a novel δ-globin gene mutation in an Iranian family. [Hemoglobin. 2010]
Identification of a novel δ-globin gene mutation in an Iranian family.
Amirian A, Jafarinejad M, Kordafshari AR, Mosayyebzadeh M, Karimipoor M, Zeinali S. Hemoglobin. 2010; 34(6):594-8.
Review Genotype-phenotype correlations in beta-thalassemias. [Blood Rev. 1994]
Review Genotype-phenotype correlations in beta-thalassemias.
Cao A, Galanello R, Rosatelli MC. Blood Rev. 1994 Mar; 8(1):1-12.
Review Insight onto the pathophysiology and clinical complications of thalassemia intermedia. [Hemoglobin. 2009]
Review Insight onto the pathophysiology and clinical complications of thalassemia intermedia.
Cappellini MD, Musallam KM, Taher AT. Hemoglobin. 2009; 33 Suppl 1:S145-59.

See reviews... See all...

Recent activity

Clear Turn Off Turn On

Severe β-thalassemia intermedia in a compound heterozygous patient for the -30 (...
Severe β-thalassemia intermedia in a compound heterozygous patient for the -30 (T>A) β(+)-thalassemia mutation and the δ(0)β(+)-Senegalese deletion.
Hemoglobin. 2010 ;34(5):505-8.

PubMed
The independent influence of apathy and depression on cognitive functioning in P...
The independent influence of apathy and depression on cognitive functioning in Parkinson's disease.
Neuropsychology. 2010 Nov ;24(6):721-30.

PubMed
A call to action for social work: minimizing financial hardship for families of ...
A call to action for social work: minimizing financial hardship for families of children with special health care needs.
Health Soc Work. 2010 Aug ;35(3):233-8.

PubMed
Acamprosate appears to decrease alcohol intake in weaned alcoholics.
Acamprosate appears to decrease alcohol intake in weaned alcoholics.
Alcohol Alcohol. 1990 ;25(6):613-22.

PubMed
Defective FA2H leads to a novel form of neurodegeneration with brain iron accumu...
Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA).
Ann Neurol. 2010 Nov ;68(5):611-8.

PubMed

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

PubMed

Result Filters

Display Settings:

Send to: