Prevention of beta-thalassemia in a large Pakistani family through cascade testing.
BACKGROUND
We report cascade testing of a large Pakistani family for beta-thalassemia alleles. The family was still practicing consanguineous marriages and was at risk of having more affected births.


OBJECTIVE
The objective of this study was to show that identification of disease carriers in families with index cases in order to create awareness about disease and provide genetic counseling would result in reduction of the frequency of beta-thalassemia in Pakistan.


METHODS
In this large family with an index case, 27 available living members were tested for beta-thalassemia. Carriers of the disease were detected by measuring hemoglobin indices, and amplification refractory mutation system polymerase chain reaction was used for mutation analysis. Genetic counseling was provided to members of this family.


RESULTS
There were already 3 marriages between the carrier members and 1 between a carrier and noncarrier in this large family; 12 (44.4%) members were found to carry the mutant gene, representing a very high carrier rate compared to the 5.4% carrier frequency of beta-thalassemia in the general population of Pakistan. The family was counseled for prevention of affected births. The initially reluctant family gradually became cooperative and seriously attended the genetic counseling sessions.


CONCLUSIONS
Cascade testing is more practical than general population screening in a country with limited health facilities where consanguineous marriages are practiced. This report emphasizes the need of extensive testing within families with index cases to identify the carriers of beta-thalassemia in order to reduce disease occurrence through awareness and genetic counseling.
Baig
S M
SM
Human Molecular Genetics Laboratory, Health Biotechnology Division, National Institute for Biotechnology and Genetic Engineering, Faisalabad, Pakistan. shahidbaig@nibge.org
Din
M A
MA
Hassan
H
H
Azhar
A
A
Baig
J M
JM
Aslam
M
M
Anjum
I
I
Farooq
M
M
Hussain
M S
MS
Rasool
M
M
Nawaz
S
S
Qureshi
J A
JA
Zaman
T
T
D003241:Consanguinity; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D005787:Gene Frequency; D005820:Genetic Testing / Q000379:methods*; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation; D010154:Pakistan; D010375:Pedigree; D012306:Risk; D017086:beta-Thalassemia / Q000175:diagnosis* / Q000208:ethnology / Q000235:genetics* / Q000517:prevention & control