Fanconi anaemia in South Africa: Past, present and future

Fanconi anaemia in South Africa: Past, present and future

Fanconi anaemia (FA) is an inherited genetic disorder characterised by somatic anomalies, bone marrow failure and an increased predisposition to solid tumours and haematological malignancies. South African (SA) black and Afrikaner individuals are at higher than average risk for this condition owing to genetic founder mutations in certain Fanconi-associated genes. This review explores the epidemiology, clinical presentation, diagnostic modalities and recommended care of affected patients, focusing on the founder population groups in SA. The early diagnosis of FA is important and provides improved opportunities for early intervention, but remains challenging.

Saved in:
Bibliographic Details
Main Authors: Feben,C, Wainstein,T, Kromberg,J, Essop,F, Krause,A
Format: Digital revista
Language:English
Published: South African Medical Association 2018
Online Access:http://www.scielo.org.za/scielo.php?script=sci_arttext&pid=S0256-95742018000500013
Tags: Add Tag
No Tags, Be the first to tag this record!
id oai:scielo:S0256-95742018000500013
record_format ojs
spelling oai:scielo:S0256-957420180005000132018-06-27Fanconi anaemia in South Africa: Past, present and futureFeben,CWainstein,TKromberg,JEssop,FKrause,AFanconi anaemia (FA) is an inherited genetic disorder characterised by somatic anomalies, bone marrow failure and an increased predisposition to solid tumours and haematological malignancies. South African (SA) black and Afrikaner individuals are at higher than average risk for this condition owing to genetic founder mutations in certain Fanconi-associated genes. This review explores the epidemiology, clinical presentation, diagnostic modalities and recommended care of affected patients, focusing on the founder population groups in SA. The early diagnosis of FA is important and provides improved opportunities for early intervention, but remains challenging.South African Medical AssociationSAMJ: South African Medical Journal v.108 n.5 20182018-05-01journal articletext/htmlhttp://www.scielo.org.za/scielo.php?script=sci_arttext&pid=S0256-95742018000500013en
institution SCIELO
collection OJS
country Sudáfrica
countrycode ZA
component Revista
access En linea
databasecode rev-scielo-za
tag revista
region África del Sur
libraryname SciELO
language English
format Digital
author Feben,C
Wainstein,T
Kromberg,J
Essop,F
Krause,A
spellingShingle Feben,C
Wainstein,T
Kromberg,J
Essop,F
Krause,A
Fanconi anaemia in South Africa: Past, present and future
author_facet Feben,C
Wainstein,T
Kromberg,J
Essop,F
Krause,A
author_sort Feben,C
title Fanconi anaemia in South Africa: Past, present and future
title_short Fanconi anaemia in South Africa: Past, present and future
title_full Fanconi anaemia in South Africa: Past, present and future
title_fullStr Fanconi anaemia in South Africa: Past, present and future
title_full_unstemmed Fanconi anaemia in South Africa: Past, present and future
title_sort fanconi anaemia in south africa: past, present and future
description Fanconi anaemia (FA) is an inherited genetic disorder characterised by somatic anomalies, bone marrow failure and an increased predisposition to solid tumours and haematological malignancies. South African (SA) black and Afrikaner individuals are at higher than average risk for this condition owing to genetic founder mutations in certain Fanconi-associated genes. This review explores the epidemiology, clinical presentation, diagnostic modalities and recommended care of affected patients, focusing on the founder population groups in SA. The early diagnosis of FA is important and provides improved opportunities for early intervention, but remains challenging.
publisher South African Medical Association
publishDate 2018
url http://www.scielo.org.za/scielo.php?script=sci_arttext&pid=S0256-95742018000500013
work_keys_str_mv AT febenc fanconianaemiainsouthafricapastpresentandfuture
AT wainsteint fanconianaemiainsouthafricapastpresentandfuture
AT krombergj fanconianaemiainsouthafricapastpresentandfuture
AT essopf fanconianaemiainsouthafricapastpresentandfuture
AT krausea fanconianaemiainsouthafricapastpresentandfuture
_version_ 1756005876914716672

Similar Items