Double heterozygosity for Hb New York [beta 113 GT...[Pediatr Hematol Oncol. 2008 Apr-May]

SearchDatabase nameforSearch term

Advanced Search

Your browser version may not work well with NCBI's Web applications. More information here...

Display Show

All: 1

Review: 0

Click to change filter selection through MyNCBI.

1: Pediatr Hematol Oncol. 2008 Apr-May;25(3):227-31. Links

Comment in:: Pediatr Hematol Oncol. 2008 Dec;25(8):769-71.

Double heterozygosity for Hb New York [beta 113 GTG-->GAG; VAL-->GLU] and beta degrees-thalassemia mutations manifests as a thalassemia trait.

Lee AC, Ma ES, Chan AY, Szeto SC, Chan LC.

Department of Paediatrics & Adolescent Medicine, Tuen Mun Hospital, Hong Kong. anselm.cw.lee@gmail.com

An extended family with three individuals affected by two different forms of double heterozygosity for beta-thalassemia and Hb New York is reported. Double heterozygosity of Hb New York [beta 113 GTG-->GAG; VAL-->GLU] and beta degrees codon 17 was detected in a fetus following prenatal screening for thalassemia. The father and a paternal aunt were also found to be heterozygous for Hb New York and beta degrees IVSII-654. Both adults had clinical and hematological features consistent with beta-thalassemia trait. The affected child was followed up after birth and manifested the typical course of a thalassemia trait, with no signs of organomegaly or overt hemolysis. Observations strongly suggest that double heterozygosity of Hb New York and beta degrees thalassemia has mild, if any, clinical symptoms, and is not an indication of therapeutic abortion when detected antenatally.

PMID: 18432506 [PubMed - indexed for MEDLINE]

Heterozygosity for the IVS-I-5 (G-->C) mutation with a G-->A change at codon 18 (Val-->Met; Hb Baden) in cis and a T-->G mutation at codon 126 (Val-->Gly; Hb Dhonburi) in trans resulting in a thalassemia intermedia.
Biochim Biophys Acta. 1992 Dec 10; 1180(2):173-9.

[Biochim Biophys Acta. 1992]
Combination of Hb Knossos [Cod 27 (G-T)] and IVSII-745 (C-G) in a Turkish patient with beta-thalassemia major.
Genet Test. 2007 Fall; 11(3):228-30.

[Genet Test. 2007]
Compound heterozygosity for Hb S [beta6(A3)GluVal, GAG-->GTG] and a new thalassemic mutation [beta132(H10)Lys-->term, AAA-->TAA] detected in a family from West Africa.
Hemoglobin. 2008; 32(3):309-13.

[Hemoglobin. 2008]
Hemoglobin D/beta-thalassemia and beta-thalassemia major in a Saudi family.
Saudi Med J. 2005 Apr; 26(4):674-7.

[Saudi Med J. 2005]
Review[The association of beta zero-thalassemia and Hb D Punjab in a family of Indian origin. The second case reported in Spain]
Med Clin (Barc). 1997 Mar 15; 108(10):385-8.

[Med Clin (Barc). 1997]
» See reviews... | » See all...

Recent Activity

Clear Turn Off Turn On

Double heterozygosity for Hb New York [beta 113 GTG-->GAG; VAL-->GLU] and beta degrees-tha...Double heterozygosity for Hb New York [beta 113 GTG-->GAG; VAL-->GLU] and beta degrees-thalassemia mutations manifests as a thalassemia trait.

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Display Show

Double heterozygosity for Hb New York [beta 113 GTG-->GAG; VAL-->GLU] and beta degrees-thalassemia mutations manifests as a thalassemia trait.

Related articles

Recent Activity