Compound heterozygosity for Hb Spanish town [alpha27(B8)Glu-->Val], Hb S [beta6(A3)Glu-->Val] and the -alpha(3.7kb) thalassemia deletion.
Faustino
Paula
P
Centro de Genética Humana, Instituto Nacional de Saúde Dr. Ricardo Jorge, Lisboa, Portugal. paula.faustino@insa.min-saude.pt
Picanço
Isabel
I
Miranda
Armandina
A
Seixas
Teresa
T
Ferrão
Anabela
A
Morais
Anabela
A
Lavinha
João
J
Romão
Luísa
L
D000328:Adult; D000747:Anemia, Hypochromic / Q000235:genetics; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D006453:Hemoglobinopathies / Q000235:genetics / Q000473:pathology; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007223:Infant; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D011174:Portugal; D017384:Sequence Deletion; D017085:alpha-Thalassemia / Q000235:genetics*
D006455:Hemoglobins, Abnormal; C476051:hemoglobin Spanish Town