PMID- 25902180
OWN - NLM
STAT- MEDLINE
DCOM- 20160324
LR  - 20211203
IS  - 1532-432X (Electronic)
IS  - 0363-0269 (Linking)
VI  - 39
IP  - 3
DP  - 2015
TI  - Molecular Basis of beta-Thalassemia Intermedia in Erbil Province of Iraqi Kurdistan.
PG  - 178-83
LID - 10.3109/03630269.2015.1032415 [doi]
AB  - beta-Thalassemia intermedia (beta-TI) is a clinical term describing a range of clinical 
      phenotypes that are intermediate in severity between the carrier state and 
      beta-thalassemia major (beta-TM). To characterize the molecular basis of beta-TI in Erbil 
      Province, Northern Iraq, 83 unrelated patients were investigated. Detection of 
      beta-globin gene mutations was carried out by reverse hybridization assay and direct 
      gene sequencing. All patients were screened for the XmnI polymorphism by direct 
      sequencing of HBG2 ((G)gamma promoter gene). Detection of alpha-globin gene deletions and 
      triplication was carried out using the reverse hybridization assay. Four main 
      molecular patterns were identified in association with the beta-TI phenotype, 
      namely: beta(+)/beta(+) (38.5%), beta(+)/beta(0) (21.6%), beta(0)/beta(0) (31.3%), and beta(0)/wild 
      type (8.4%). IVS-I-6 (T > C) was the most frequently encountered mutation (55 
      alleles, 34.6%), followed by IVS-II-1 (G > A) and codon 8 (-AA); furthermore, we 
      report for the first time from Iraq two beta(+) mutations, -87 (C > G) and 5' 
      untranslated region (5'UTR) +22 (G > A). The XmnI polymorphism was detected in 
      47.0% of patients, mainly in association with the beta(0)/beta(0) genotype. The 
      alpha-globin gene deletions were encountered in four cases, including one case with 
      (- -(FIL)) double gene deletion, a report that is the first from our country. The 
      alpha-globin gene triplication was detected in five of the seven heterozygous 
      beta-thalassemia (beta-thal) patients. Similar to other Mediterranean countries, 
      inheritance of mild beta-globin mutations was the main molecular pattern underlying 
      beta-TI in our patients followed by the ameliorating effect of the XmnI 
      polymorphism.
FAU - Shamoon, Rawand P
AU  - Shamoon RP
AD  - Department of Pathology, College of Medicine, Hawler Medical University , Erbil , 
      Iraq .
FAU - Al-Allawi, Nasir A S
AU  - Al-Allawi NA
FAU - Cappellini, Maria D
AU  - Cappellini MD
FAU - Di Pierro, Elena
AU  - Di Pierro E
FAU - Brancaleoni, Valentina
AU  - Brancaleoni V
FAU - Granata, Francesca
AU  - Granata F
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20150422
PL  - England
TA  - Hemoglobin
JT  - Hemoglobin
JID - 7705865
RN  - 0 (Codon)
RN  - 0 (beta-Globins)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Alleles
MH  - Child
MH  - Child, Preschool
MH  - Codon
MH  - Erythrocyte Indices
MH  - Ethnicity/*genetics
MH  - Female
MH  - Gene Frequency
MH  - Genotype
MH  - Humans
MH  - Iraq/epidemiology
MH  - Male
MH  - Middle Aged
MH  - *Mutation
MH  - Phenotype
MH  - Young Adult
MH  - beta-Globins/*genetics
MH  - beta-Thalassemia/diagnosis/*epidemiology/*genetics
OTO - NOTNLM
OT  - Iraqi Kurdistan
OT  - XmnI polymorphism
OT  - beta-Thalassemia (beta-thal)
OT  - beta-thalassemia intermedia (beta-TI) Erbil
EDAT- 2015/04/23 06:00
MHDA- 2016/03/25 06:00
CRDT- 2015/04/23 06:00
PHST- 2015/04/23 06:00 [entrez]
PHST- 2015/04/23 06:00 [pubmed]
PHST- 2016/03/25 06:00 [medline]
AID - 10.3109/03630269.2015.1032415 [doi]
PST - ppublish
SO  - Hemoglobin. 2015;39(3):178-83. doi: 10.3109/03630269.2015.1032415. Epub 2015 Apr 
      22.