Compound heterozygosity for hemoglobin Knossos [alpha 2 beta 2 27 (B9) Ala-Ser] and IVS I-1 mutation.
A three-year-old female with compound heterozygosity for Hb Knossos and IVS-I-1 mutation is presented. On physical examination she had no abnormality except for pallor. Hb was 6.9 g/dl, MCV 61 fl, Hb A2 2% and Hb F 38.5%. Acrylamidegel electrophoresis at a pH of 6 revealed the presence of Hb Knossos in the child and her father. DNA studies revealed that the child was compound heterozygous for Hb Knossos and the IVS I-1 mutation. When the clinical expression of this combination in a previously reported patient with Hb Knossos/FSC8 mutation is compared, it is shown that the newly presented patient has a more severe condition, indicating that the mutations in the trans of Hb Knossos may play a role in the phenotypical expression of the disease.
Gürgey
A
A
Department of Pediatrics, Hacettepe University Faculty of Medicine, Ankara.
Balkan
H
H
Irken
G
G
Gümrük
F
F
Altay
S
S
Kalaycioğlu
A
A
Oner
C
C
Oner
R
R
D000740:Anemia / Q000235:genetics; D002675:Child, Preschool; D005260:Female; D006580:Genetic Carrier Screening; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D009154:Mutation / Q000235:genetics*; D017422:Sequence Analysis, DNA; D017086:beta-Thalassemia / Q000150:complications / Q000175:diagnosis / Q000235:genetics*
D006455:Hemoglobins, Abnormal; C036232:hemoglobin Knossos