PMID- 28670940
OWN - NLM
STAT- MEDLINE
DCOM- 20171219
LR  - 20171219
IS  - 1532-432X (Electronic)
IS  - 0363-0269 (Linking)
VI  - 41
IP  - 2
DP  - 2017 Mar
TI  - Rare beta-Globin Gene Mutations in Pakistan.
PG  - 100-103
LID - 10.1080/03630269.2017.1339612 [doi]
AB  - The aim of this study was to analyze the rare beta-thalassemia (beta-thal) mutations in 
      the Pakistani population. A total of 8716 unrelated Pakistani individuals having 
      children with transfusion-dependent thalassemia were investigated by 
      amplification refractory mutation system-polymerase chain reaction (ARMS-PCR) for 
      the previously reported common and rare beta-thal mutations. Genomic sequencing of 
      the beta-globin gene and its immediate 5' and 3' flanking regions was done where no 
      known mutation was found. Out of the 8716 individuals studied, 88 (1.0%) were not 
      characterized by ARMS-PCR. Genomic sequencing revealed that 67 (0.82%) 
      individuals had 19 different beta-thal mutations including one novel mutation (HBB: 
      c.136delT). The remaining 21 (0.26%) individuals did not show any mutation on the 
      beta-globin gene and its immediate flanking regions. The characterized alleles 
      included seven (0.09%) in the 5' untranslated region (5'UTR), 29 (0.35%) in the 
      coding regions, and 31 (0.38%) in the splice junction regions. HBB: c.92+1G>A and 
      HBB: c.113G>A were the most frequently seen rare mutations. The spectrum of 
      beta-thal mutations in the Pakistani population is very diverse. In addition to the 
      already reported mutations, another 19 different types of mutations were found. 
      Interestingly, 21 individuals who had children with transfusion-dependent 
      thalassemia and one known beta-thal mutation, did not show any mutation on the 
      beta-globin gene. HBB: c.92+1G>A and HBB: c.113G>A are the most frequently seen rare 
      mutations in Pakistan.
FAU - Hussain, Ahsan
AU  - Hussain A
AD  - a Department of Haematology , Armed Forces Institute of Pathology , Rawalpindi , 
      Pakistan.
FAU - Ahmed, Suhaib
AU  - Ahmed S
AD  - b Department of Pathology , Riphah International University , Islamabad , 
      Pakistan.
FAU - Ali, Nadir
AU  - Ali N
AD  - a Department of Haematology , Armed Forces Institute of Pathology , Rawalpindi , 
      Pakistan.
FAU - S Mailk, Hamid
AU  - S Mailk H
AD  - a Department of Haematology , Armed Forces Institute of Pathology , Rawalpindi , 
      Pakistan.
FAU - Anees, Mariam
AU  - Anees M
AD  - c Department of Biochemistry , Quaid-i-Azam University Islamabad , Pakistan.
FAU - Chuahdry, Altaf H
AU  - Chuahdry AH
AD  - a Department of Haematology , Armed Forces Institute of Pathology , Rawalpindi , 
      Pakistan.
FAU - Ahmed, Parvez
AU  - Ahmed P
AD  - a Department of Haematology , Armed Forces Institute of Pathology , Rawalpindi , 
      Pakistan.
LA  - eng
PT  - Journal Article
DEP - 20170703
PL  - England
TA  - Hemoglobin
JT  - Hemoglobin
JID - 7705865
RN  - 0 (3' Untranslated Regions)
RN  - 0 (5' Untranslated Regions)
RN  - 0 (beta-Globins)
SB  - IM
MH  - *3' Untranslated Regions
MH  - *5' Untranslated Regions
MH  - Female
MH  - Humans
MH  - Male
MH  - *Mutation
MH  - Pakistan
MH  - Thalassemia/*genetics
MH  - beta-Globins/*genetics
OTO - NOTNLM
OT  - Pakistan
OT  - rare mutations
OT  - beta-Thalassemia (beta-thal)
EDAT- 2017/07/04 06:00
MHDA- 2017/12/20 06:00
CRDT- 2017/07/04 06:00
PHST- 2017/07/04 06:00 [pubmed]
PHST- 2017/12/20 06:00 [medline]
PHST- 2017/07/04 06:00 [entrez]
AID - 10.1080/03630269.2017.1339612 [doi]
PST - ppublish
SO  - Hemoglobin. 2017 Mar;41(2):100-103. doi: 10.1080/03630269.2017.1339612. Epub 2017 
      Jul 3.