PMID- 10569723
OWN - NLM
STAT- MEDLINE
DCOM- 19991223
LR  - 20190915
IS  - 0363-0269 (Print)
IS  - 0363-0269 (Linking)
VI  - 23
IP  - 4
DP  - 1999 Nov
TI  - Two new alpha chain variants: Hb Boghe [alpha58(E7)His-->Gln, alpha2], a variant 
      on the distal histidine, and Hb CHarolles [alpha103(G10)His-Tyr, alpha1].
PG  - 345-52
AB  - The present paper reports two new alpha-globin chain variants: Hb Boghe
      [alpha58(E7)His-->Gln, alpha2] and Hb Charolles [alpha103(G10)His-->Tyr, alpha1].
      Hb Boghe was found in a 12-month-old girl who was treated for malignant
      histiocytosis at 9 months of age and received a bone marrow transplant from her
      sister. Hb Boghe was undetectable by isoelectrofocusing and high performance
      liquid chromatography of hemoglobins. It was only revealed by polyacrylamide gel 
      electrophoresis of globin chains in the presence of urea-Triton X-100 and
      accounted for 10% of the total hemoglobin. Hb Charolles was detected in a
      46-year-old patient who presented with microcytosis and hypochromia. It was
      easily detected by isoelectrofocusing and high performance liquid chromatography.
      Hb Charolles accounted for 11% of the total hemoglobin. Characterization of the
      two hemoglobin variants was achieved by DNA and restriction enzyme analyses.
      Oxygen equilibrium curves measured on whole blood with Hb Boghe were normal. DNA 
      sequencing revealed the association of Hb Charolles with a common mutation of the
      alpha2 polyadenylation site: AATAAA-->AATAAG.
FAU - Lacan, P
AU  - Lacan P
AD  - Department of Biochemistry, Edouard Herriot Hospital, Lyon, France.
FAU - Francina, A
AU  - Francina A
FAU - Souillet, G
AU  - Souillet G
FAU - Aubry, M
AU  - Aubry M
FAU - Couprie, N
AU  - Couprie N
FAU - Dementhon, L
AU  - Dementhon L
FAU - Becchi, M
AU  - Becchi M
LA  - eng
PT  - Case Reports
PT  - Journal Article
PL  - England
TA  - Hemoglobin
JT  - Hemoglobin
JID - 7705865
RN  - 0 (Hemoglobins, Abnormal)
RN  - 0 (hemoglobin Boghe)
RN  - 0 (hemoglobin Charolles)
RN  - 0RH81L854J (Glutamine)
RN  - 42HK56048U (Tyrosine)
RN  - 4QD397987E (Histidine)
RN  - 9004-22-2 (Globins)
SB  - IM
MH  - Amino Acid Substitution
MH  - Chromatography, High Pressure Liquid
MH  - Female
MH  - *Genetic Variation
MH  - Globins/*genetics
MH  - Glutamine/chemistry
MH  - Hemoglobins, Abnormal/*genetics
MH  - Histidine/chemistry
MH  - Humans
MH  - Infant
MH  - Isoelectric Focusing
MH  - Tyrosine/chemistry
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 - 10.3109/03630269909090750 [doi]
PST - ppublish
SO  - Hemoglobin. 1999 Nov;23(4):345-52. doi: 10.3109/03630269909090750.