Compound Heterozygosity for Two New Mutations in the β‐Globin Gene [Codon 9 (+ TA) and Polyadenylation Site (AA<i>T</i>AAA→AA<i>A</i>AAA)] Leads to Thalassemia Intermedia in a Tunisian Patient

Jacquette, Aurélia; Roux, G; Lacombe, C.; Goossens, Michel; Pissard, Serge

doi:10.1081/hem-120040304

Cited by 14 publications

(4 citation statements)

References 15 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…As mutations in regulatory regions have been identified in several other genes including polyA site mutations in β- globin [15] and forkhead box P3 ( FOXP3 ) [16] and minimal promoter regions of cytochrome b-245, beta polypeptide ( CYBB ) [17], we attempted to rule out an RNA processing mutation by amplifying and sequencing the regulatory regions of IL2RG including the promoter and polyA signal sequence. The minimal promoter region did not differ from the consensus sequence; however, the polyA signal sequence demonstrated a single base change from the consensus of AATAAA to AATAAG.…”

Section: Case Studymentioning

confidence: 99%

Mutation analysis in primary immunodeficiency diseases: case studies

Hsu

Fleisher²,

Niemela

2009

Current Opinion in Allergy &Amp; Clinical Immunology

View full text Add to dashboard Cite

Purpose of review The application of mutation analysis is becoming an integral part of the complete evaluation of patients with primary immunodeficiencies, and as such, clinicians caring for these patients must develop a better understanding of the utility and challenges of this important laboratory technology. Recent findings Genomic DNA sequencing is currently the standard approach used to characterize a possible gene mutation causing a specific primary immunodeficiency. There are clinical situations in which this approach is revealing of a genetic defect and other circumstances in which this generates a false-positive or false-negative result. One case study is presented that reviews a straightforward analysis that clarifies the genetic basis of a primary immunodeficiency, and four cases are presented that required additional studies to clarify the underlying basis of the immunodeficiency. In the latter circumstances, the rationale for additional studies is outlined and the outcome of these is presented. Summary The identification of a gene mutation as the underlying basis of a primary immunodeficiency begins with the evaluation of the clinical presentation focusing on the infection history so as to develop a differential diagnosis including potential genetic causes. The next step is to obtain specific laboratory studies, including immunologic function evaluation, and, based on these findings, to proceed with DNA sequencing of one or several selected candidate genes. Genomic DNA sequencing has certain limitations, and alternative follow-up approaches may be necessary to establish the molecular basis of the primary immunodeficiency in a given patient.

show abstract

Section: Case Studymentioning

confidence: 99%

Mutation analysis in primary immunodeficiency diseases: case studies

Hsu

Fleisher²,

Niemela

2009

Current Opinion in Allergy &Amp; Clinical Immunology

View full text Add to dashboard Cite

show abstract

“…Mutations in the region are generally associated with silent beta‐thalassemia with no hematologic abnormalities detected in carriers. Mutations in 3′‐UTR are rather uncommon with 18 reported mutations to date …”

Section: Hematologic Parameters and Beta‐globin Gene Analysis Resultsmentioning

confidence: 99%

Compound heterozygosity of a silent beta‐thalassemia mutation at the 3′‐untranslated region (HBB: c.*132 C>T) and beta‐zero thalassemia results in thalassemia intermedia

Sripusanapan

Phusua

Fanhchaksai

et al. 2020

Pediatric Blood & Cancer

View full text Add to dashboard Cite

“…It is also a prerequisite for β‐thalassemia carriers screening in prevention programs and prenatal diagnosis offered to at risk couples . In Tunisia, β‐thalassemia mutations spectrum revealed a great molecular heterogeneity with 28 different alleles reported up to now .…”

Section: Discussionmentioning

confidence: 99%