PMID- 15194542
OWN - NLM
STAT- MEDLINE
DCOM- 20060310
LR  - 20061115
IS  - 1592-8721 (Electronic)
IS  - 0390-6078 (Linking)
VI  - 89
IP  - 6
DP  - 2004 Jun
TI  - Hb Gun Hill: a further de novo observation.
PG  - 743-5
AB  - Here we report the third observation (the second de novo) of unstable Hb Gun Hill 
      or [b91(F7)-95(FG2)Leu-His-Cys-Asp-Lys-->0]. The two-year old male carrier showed 
      low mean corpuscular hemoglobin (MCH) and mean hemoglobim concentration (MCHC), 
      8.5% fetal hemoglobin and trade mark 30% variant hemoglobin. Mild hemolytic 
      symptoms were detected seven years later. DNA sequencing and functional studies 
      of mRNA and globin chains were performed.
FAU - De Angioletti, Maria
AU  - De Angioletti M
FAU - Lacerra, Giuseppina
AU  - Lacerra G
FAU - Testa, Rosario
AU  - Testa R
FAU - Flagiello, Angela
AU  - Flagiello A
FAU - Schiliro, Gino
AU  - Schiliro G
FAU - Carestia, Clementina
AU  - Carestia C
LA  - eng
PT  - Case Reports
PT  - Letter
PT  - Research Support, Non-U.S. Gov't
PL  - Italy
TA  - Haematologica
JT  - Haematologica
JID - 0417435
RN  - 0 (Hemoglobins, Abnormal)
RN  - 11046-95-0 (hemoglobin Gun Hill)
SB  - IM
MH  - Child, Preschool
MH  - Hemoglobins, Abnormal/*genetics
MH  - Heterozygote
MH  - Humans
MH  - Male
MH  - Mutation
MH  - Pedigree
EDAT- 2004/06/15 05:00
MHDA- 2006/03/11 09:00
CRDT- 2004/06/15 05:00
PHST- 2004/06/15 05:00 [pubmed]
PHST- 2006/03/11 09:00 [medline]
PHST- 2004/06/15 05:00 [entrez]
PST - ppublish
SO  - Haematologica. 2004 Jun;89(6):743-5.