Detection of non-deletional mutations of β globin gene cluster in patients with unexplained β thalassaemia and hereditary persistence of fetal haemoglobin

2010 ◽  
Author(s):  
Wai-kei, Vicky Fung
Keyword(s):  
Gene Cluster ◽  
Globin Gene ◽  
Fetal Haemoglobin ◽  
Globin Gene Cluster ◽  
Hereditary Persistence

scholarly journals Expression of Human Globin Genes in Transgenic Mice Carrying the ?-Globin Gene Cluster with a Mutation CausingG??+Hereditary Persistence of Fetal Hemoglobin

1990 ◽  
Vol 612 (1 Sixth Cooley') ◽  
pp. 167-178 ◽  
Author(s):  
MINORU TANAKA ◽  
JUDITH A. NOLAN ◽  
AJAY K. BHARGAVA ◽  
KIRSTEN ROOD ◽  
FRANCIS S. COLLINS ◽  
...  
Keyword(s):  
Transgenic Mice ◽  
Gene Cluster ◽  
Globin Gene ◽  
Fetal Hemoglobin ◽  
Globin Genes ◽  
Globin Gene Cluster ◽  
Hereditary Persistence

scholarly journals Characterization of β-Globin Gene Cluster Deletions Using Multiplex-Gap Polymerase Chain Reaction (PCR) and Multiplex Ligation-Dependent Probe Amplification (MLPA)

2021 ◽  
Vol 20 (3) ◽  
pp. 618-624
Author(s):  
Yasmin n Mohamad Redzuwan ◽  
Siti Nor Assyuhada Mat Ghani ◽  
Rozanah Abdul Ghani ◽  
Yousef Saeed Mohammad Abu Za’ror ◽  
Rosnah Bahar ◽  
...  
Keyword(s):  
Gene Cluster ◽  
Globin Gene ◽  
Medical Science ◽  
Definitive Diagnosis ◽  
Hemoglobin F ◽  
Gamma Globin ◽  
Globin Gene Cluster ◽  
Hereditary Persistence ◽  
Hemoglobin Variants ◽  
Dependent Probe

Background : Deletions in the β-globin gene cluster are usually rare, problematic to detect, and subsequently possess a challenge in many diagnostic laboratories. They are normally related to the heterozygous of the delta beta (δβ) thalassemia, hereditary persistence of fetalhemoglobin (HPFH) and some of the hemoglobin variants. These disorders are typically presented by elevated levels of hemoglobin F (Hb F), but with low to normal hemoglobin A2 (Hb A2). However, despite their existence, there is still a limited number of studies focusing on this area, hence no definitive diagnosis could be conclusively established. Therefore, this pilot study was carried out to fill this knowledge gap. Methods: In this study, screening of the selected deletional mutations in the β-globin gene cluster among patients with Hb F (>1%) and Hb A2 (<4%) were performed using multiplex Gap-PCR and multiplex ligation-dependent probe amplification (MLPA). Results: The results showed that out of 54 samples tested using multiplex Gap-PCR against four target deletions; Thai (δβ)°-thalassemia, HPFH-6, Siriraj J and HbLepore, one sample was found positive with Thai (δβ)°-thalassemia. Further findings from the MLPA screening on 12 randomly selected samples revealed that another patient was positive with double deletions within the region of the β-globin gene cluster. These deletions occur at the gamma-globin gene 1 (HBG1) and gamma-globin gene 2 (HBG2) in exon 3. Conclusions: In conclusion, this study highlighted the importance of these deletions’ characterization using multiplex Gap-PCR and MLPA which helps in establishing a definitive diagnosis among this selected group of patients. Bangladesh Journal of Medical Science Vol.20(3) 2021 p.618-624

scholarly journals Interaction of two different disorders in the beta-globin gene cluster associated with an increased hemoglobin F production: a novel deletion type of (G) gamma + ((A) gamma delta beta)(0)-thalassemia and a delta(0)-hereditary persistence of fetal hemoglobin determinant

Blood ◽  
1991 ◽  
Vol 77 (4) ◽  
pp. 861-867
Author(s):  
M Losekoot ◽  
R Fodde ◽  
EJ Gerritsen ◽  
I van de Kuit ◽  
A Schreuder ◽  
...  
Keyword(s):  
Gene Cluster ◽  
Globin Gene ◽  
Fetal Hemoglobin ◽  
Beta Globin ◽  
Gamma Delta ◽  
Hemoglobin F ◽  
Beta Globin Gene ◽  
Globin Gene Cluster ◽  
Hereditary Persistence

We report two different disorders of the beta-globin gene cluster segregating in a Belgian family: a novel deletion that results in (G) gamma + ((A) gamma delta beta)(0)-thalassemia (thal) and a heterocellular hereditary persistence of foetal hemoglobin of the Swiss type linked to a delta(0)-thal gene (delta (0)-HPFH). Heterozygosity for the heterocellular HPFH brings about a moderate (3.4% to 8.24%) increase of hemoglobin (Hb) F having a G gamma/A gamma ratio of 4:1, whereas carriers of the G gamma + ((A) gamma delta beta)(0)-thal deletion show in their peripheral blood a considerably higher (15%) percentage of Hb F. Both defects interact in the compound heterozygotes for G gamma + ((A) gamma delta beta)(0)-thal and delta(0)-HPFH producing a further increase (up to 24%) of fetal Hb consisting entirely of G gamma chains. Molecular characterization of the (G) gamma + ((A) gamma delta beta)(0)-thal by means of Southern analysis showed that the deletion spans about 50 kb, removing the 3′ end of the A gamma- gene, the psi beta-, delta-, and beta-genes. A number of possible mechanisms leading to the overproduction of Hb F in HPFH and (G) gamma + ((A) gamma delta beta)(0)-thal will be discussed.

Synergistic effect of two β globin gene cluster mutations leading to the hereditary persistence of fetal hemoglobin (HPFH) phenotype

2017 ◽  
Vol 44 (5) ◽  
pp. 413-417 ◽  
Author(s):  
Priya Hariharan ◽  
Madhavi Sawant ◽  
Manju Gorivale ◽  
Ruma Manchanda ◽  
Roshan Colah ◽  
...  
Keyword(s):  
Synergistic Effect ◽  
Gene Cluster ◽  
Globin Gene ◽  
Fetal Hemoglobin ◽  
Globin Gene Cluster ◽  
Hereditary Persistence

scholarly journals Interaction of two different disorders in the beta-globin gene cluster associated with an increased hemoglobin F production: a novel deletion type of (G) gamma + ((A) gamma delta beta)(0)-thalassemia and a delta(0)-hereditary persistence of fetal hemoglobin determinant

Blood ◽  
1991 ◽  
Vol 77 (4) ◽  
pp. 861-867 ◽  
Author(s):  
M Losekoot ◽  
R Fodde ◽  
EJ Gerritsen ◽  
I van de Kuit ◽  
A Schreuder ◽  
...  
Keyword(s):  
Gene Cluster ◽  
Globin Gene ◽  
Fetal Hemoglobin ◽  
Beta Globin ◽  
Gamma Delta ◽  
Hemoglobin F ◽  
Beta Globin Gene ◽  
Globin Gene Cluster ◽  
Hereditary Persistence

Abstract We report two different disorders of the beta-globin gene cluster segregating in a Belgian family: a novel deletion that results in (G) gamma + ((A) gamma delta beta)(0)-thalassemia (thal) and a heterocellular hereditary persistence of foetal hemoglobin of the Swiss type linked to a delta(0)-thal gene (delta (0)-HPFH). Heterozygosity for the heterocellular HPFH brings about a moderate (3.4% to 8.24%) increase of hemoglobin (Hb) F having a G gamma/A gamma ratio of 4:1, whereas carriers of the G gamma + ((A) gamma delta beta)(0)-thal deletion show in their peripheral blood a considerably higher (15%) percentage of Hb F. Both defects interact in the compound heterozygotes for G gamma + ((A) gamma delta beta)(0)-thal and delta(0)-HPFH producing a further increase (up to 24%) of fetal Hb consisting entirely of G gamma chains. Molecular characterization of the (G) gamma + ((A) gamma delta beta)(0)-thal by means of Southern analysis showed that the deletion spans about 50 kb, removing the 3′ end of the A gamma- gene, the psi beta-, delta-, and beta-genes. A number of possible mechanisms leading to the overproduction of Hb F in HPFH and (G) gamma + ((A) gamma delta beta)(0)-thal will be discussed.

Rapid and reliable β-globin gene cluster haplotyping of sickle cell disease patients by FRET Light Cycler and HRM assays

2011 ◽  
Vol 412 (13-14) ◽  
pp. 1257-1261 ◽  
Author(s):  
Philippe Joly ◽  
Philippe Lacan ◽  
Caroline Garcia ◽  
Angelique Delasaux ◽  
Alain Francina
Keyword(s):  
Sickle Cell Disease ◽  
Gene Cluster ◽  
Sickle Cell ◽  
Globin Gene ◽  
Cell Disease ◽  
Globin Gene Cluster ◽  
Light Cycler

Hemoglobin variants, hematological parameters andβ-globin gene cluster haplotypes in an isolated Amerindian group from the Orinoco River Delta

2008 ◽  
Vol 35 (2) ◽  
pp. 250-255 ◽  
Author(s):  
Anabel Arends ◽  
Marycarmen Chacín ◽  
Martha Bravo-Urquiola ◽  
Tibisay Arends De O ◽  
Maritza Álvarez ◽  
...  
Keyword(s):  
Gene Cluster ◽  
Hematological Parameters ◽  
Globin Gene ◽  
River Delta ◽  
Orinoco River ◽  
Globin Gene Cluster ◽  
Hemoglobin Variants
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