Two new unstable haemoglobins leading to chronic haemolytic anaemia: Hb Caruaru [beta122 (GH5) Phe-->Ser], a probable case of germ line mutation, and Hb Olinda [beta22 (B4) - 25 (B7)], a deletion of a 12 base-pair sequence.
We describe here two new unstable beta-globin variants, Hb Caruaru and Hb Olinda, found in northeastern Brazil, both associated with chronic haemolytic anaemia. Haemoglobin Caruaru is caused by a single base substitution at codon 122 (TTC-->TCC), possibly originating from the germ line cells of the patient's grandmother. Haemoglobin Olinda is also a de novo mutation, caused by a 12 bp deletion leading to the removal of the 22nd to the 25th residues of the normal beta-globin chain.
Bezerra
Marcos A C
MA
Haematology and Haemotherapy Centre of Pernambuco-HEMOPE, Recife, Pernambuco, Brazil.
Albuquerque
Dulcinéia M
DM
Santos
Magnun N N
MN
Kimura
Elza M
EM
Jorge
Susan E D C
SE
Oliveira
Denise M
DM
Domingues
Betânia L T B
BL
Peres
Jaqueline C
JC
Araújo
Aderson S
AS
Costa
Fernando F
FF
Sonati
Maria F
MF
D000743:Anemia, Hemolytic / Q000235:genetics*; D001938:Brazil; D002908:Chronic Disease; D018095:Germ-Line Mutation; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D017354:Point Mutation; D055550:Protein Stability; D017384:Sequence Deletion; D055544:beta-Globins / Q000235:genetics
D006455:Hemoglobins, Abnormal; D055544:beta-Globins; C544413:hemoglobin Caruaru; C544414:hemoglobin Olinda