PMID- 10398311
OWN - NLM
STAT- MEDLINE
DCOM- 19990726
LR  - 20190822
IS  - 0361-8609 (Print)
IS  - 0361-8609 (Linking)
VI  - 61
IP  - 3
DP  - 1999 Jul
TI  - Hb Iraq-Halabja beta10 (A7) Ala-->Val (GCC-->GTC): a new beta-chain silent
      variant in a family with multiple Hb disorders.
PG  - 187-93
AB  - A patient originating from Iraq was referred to our laboratory upon suspicion of 
      a hemoglobinopathy. Routine hematological tests revealed a microcytic and
      slightly anemic phenotype with an elevated HbA2 suggestive of beta-thalassemia.
      Samples were obtained for several members of the family which upon examination
      revealed highly heterogeneous phenotypes that prompted us to investigate the case
      further. Sequencing of the beta-globin gene and alpha cluster mapping in the
      propositus and his brother showed a previously undescribed beta-globin variant:Hb
      Iraq-Halabja, beta10(A7) Ala-->Val (GCC-->GTC), associated with beta0-thalassemia
      IVS-2 nt1 G-->A and either alpha-thal-2-3.7 kb deletion (brother), or
      alpha-globin gene triplication anti-3.7 kb type (propositus). Detailed functional
      studies of the variant gave a normal oxygenation curve, a normal heterotopic
      action of 2,3 DPG, and normal heat stability and isopropanol precipitation tests.
      The variant shows a clear difference in migration properties compared to normal
      beta-chain only when run on PAGE urea Triton. As expected, alpha/beta-globin mRNA
      ratios were influenced by the concomitant presence of an alpha-globin gene
      pathology and the beta0 thalassemia and not by the presence of the beta-globin
      variant which apparently is clinically silent.
CI  - Copyright 1999 Wiley-Liss, Inc.
FAU - Deutsch, S
AU  - Deutsch S
AD  - Division d'Hematologie, Hopital Cantonal Universitaire de Geneve, Switzerland.
FAU - Darbellay, R
AU  - Darbellay R
FAU - Offord, R
AU  - Offord R
FAU - Frutiger, A
AU  - Frutiger A
FAU - Kister, J
AU  - Kister J
FAU - Wajcman, H
AU  - Wajcman H
FAU - Beris, P
AU  - Beris P
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Am J Hematol
JT  - American journal of hematology
JID - 7610369
RN  - 0 (Hemoglobins, Abnormal)
RN  - 0 (Macromolecular Substances)
RN  - 0 (RNA, Messenger)
RN  - 0 (hemoglobin Iraq-halabja)
RN  - 9004-22-2 (Globins)
RN  - HG18B9YRS7 (Valine)
RN  - OF5P57N2ZX (Alanine)
SB  - IM
MH  - Adult
MH  - Alanine
MH  - Amino Acid Substitution
MH  - Child
MH  - Child, Preschool
MH  - Female
MH  - *Genetic Variation
MH  - Genotype
MH  - Globins/*genetics
MH  - Hemoglobinopathies/blood/genetics
MH  - Hemoglobins, Abnormal/chemistry/*genetics
MH  - Humans
MH  - Macromolecular Substances
MH  - Male
MH  - Middle Aged
MH  - Models, Molecular
MH  - Pedigree
MH  - Phenotype
MH  - *Point Mutation
MH  - Protein Conformation
MH  - Protein Structure, Secondary
MH  - RNA, Messenger/genetics
MH  - Valine
EDAT- 1999/07/09 00:00
MHDA- 1999/07/09 00:01
CRDT- 1999/07/09 00:00
PHST- 1999/07/09 00:00 [pubmed]
PHST- 1999/07/09 00:01 [medline]
PHST- 1999/07/09 00:00 [entrez]
AID - 10.1002/(SICI)1096-8652(199907)61:3<187::AID-AJH5>3.0.CO;2-7 [pii]
AID - 10.1002/(sici)1096-8652(199907)61:3<187::aid-ajh5>3.0.co;2-7 [doi]
PST - ppublish
SO  - Am J Hematol. 1999 Jul;61(3):187-93. doi:
      10.1002/(sici)1096-8652(199907)61:3<187::aid-ajh5>3.0.co;2-7.