PMID- 10569720
OWN - NLM
STAT- MEDLINE
DCOM- 19991223
LR  - 20190915
IS  - 0363-0269 (Print)
IS  - 0363-0269 (Linking)
VI  - 23
IP  - 4
DP  - 1999 Nov
TI  - Hb Aghia Sophia [alpha62(E11)Val-->0 (alpha1)], an "in-frame" deletion causing
      alpha-thalassemia.
PG  - 317-24
AB  - In this report we describe a case of Hb H disease due to the interaction of the
      --(MED 1) deletion with a new alpha(+)-thalassemia determinant. The molecular
      analysis of the proband's genomic DNA was carried out by polymerase chain
      reaction amplification and sequencing of both alpha genes of the
      alpha(+)-thalassemia chromosome and revealed a deletion of codon 62 of the alpha1
      gene. This DNA triplet codes for a valine residue at the E11 alpha helix, which
      is located in the interior of the heme pocket. Substitutions of valine E11 with
      other amino acid residues in the alpha as well as beta polypeptide chains lead,
      in the heterozygous carrier, either to Hb M disease or to congenital
      non-spherocytic hemolytic anemia. We assume that the deletion of valine at
      alpha62(E11) disrupts the conformation of the alpha chain to such an extent that 
      the mutated subunit is rapidly removed by proteolysis. The final result is an
      alpha-thalassemia phenotype rather than an unstable hemoglobin syndrome. This
      conclusion is supported by the apparent absence of an abnormal alpha chain in the
      peripheral blood of the patient.
FAU - Traeger-Synodinos, J
AU  - Traeger-Synodinos J
AD  - First Department of Pediatrics Aghia Sophia Children Hospital Athens University, 
      Greece.
FAU - Harteveld, C L
AU  - Harteveld CL
FAU - Kanavakis, E
AU  - Kanavakis E
FAU - Giordano, P C
AU  - Giordano PC
FAU - Kattamis, C
AU  - Kattamis C
FAU - Bernini, L F
AU  - Bernini LF
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - England
TA  - Hemoglobin
JT  - Hemoglobin
JID - 7705865
RN  - 0 (Codon)
RN  - 0 (Hemoglobins, Abnormal)
RN  - 0 (hemoglobin Aghia Sophia)
RN  - HG18B9YRS7 (Valine)
SB  - IM
MH  - Child, Preschool
MH  - *Codon
MH  - *Gene Deletion
MH  - Hemoglobins, Abnormal/*genetics
MH  - Humans
MH  - Male
MH  - Polymerase Chain Reaction
MH  - Sequence Analysis, DNA
MH  - Valine
MH  - alpha-Thalassemia/*genetics
EDAT- 1999/11/24 00:00
MHDA- 1999/11/24 00:01
CRDT- 1999/11/24 00:00
PHST- 1999/11/24 00:00 [pubmed]
PHST- 1999/11/24 00:01 [medline]
PHST- 1999/11/24 00:00 [entrez]
AID - 10.3109/03630269909090747 [doi]
PST - ppublish
SO  - Hemoglobin. 1999 Nov;23(4):317-24. doi: 10.3109/03630269909090747.