TY - JOUR
T1 - Hb seal rock [(α2)142 term→Glow, Codon 142 TAA→GAA]
T2 - An extended α chain variant associated with Anemia, Microcytosis, and α-Thalassemia-2 (- 3.7 Kb)a
AU - Merritt, D.
AU - Jones, R. T.
AU - Head, C.
AU - Thibodeau, S. N.
AU - Fairbanks, V. F.
AU - Steinberg, M. H.
AU - Coleman, M. B.
AU - Rodgers, G. P.
PY - 1997
Y1 - 1997
N2 - Hb Seal Rock was first reported in a young African-American woman and her 2-year-old daughter (1). It is an extended a chain variant which, like Hb Constant Spring, is present in small quantity and is expressed as an α- Hb H disease was observed in the index case with Hb Pakse. In that case, however, the genotype of the proband was α(Pakse)α/- -, inasmuch as she had the SEA α-thal-1 deletion on one chromosome 16 and the α2-Pakse mutation on the other. In another family in which Hb Pakse, Hb Constant Spring, and the -3.7 kb α-thal-2 gene occurred, it was observed that the combinations α(Pakse)α/α and α(Pakse)α/α(-3.7 kb) were both associated with mild anemia and only slight microcytosis (27). The expected gradation in severity of anemia and microcytosis is well exemplified in these three complementary studies (Table IV).
AB - Hb Seal Rock was first reported in a young African-American woman and her 2-year-old daughter (1). It is an extended a chain variant which, like Hb Constant Spring, is present in small quantity and is expressed as an α- Hb H disease was observed in the index case with Hb Pakse. In that case, however, the genotype of the proband was α(Pakse)α/- -, inasmuch as she had the SEA α-thal-1 deletion on one chromosome 16 and the α2-Pakse mutation on the other. In another family in which Hb Pakse, Hb Constant Spring, and the -3.7 kb α-thal-2 gene occurred, it was observed that the combinations α(Pakse)α/α and α(Pakse)α/α(-3.7 kb) were both associated with mild anemia and only slight microcytosis (27). The expected gradation in severity of anemia and microcytosis is well exemplified in these three complementary studies (Table IV).
UR - http://www.scopus.com/inward/record.url?scp=0030742509&partnerID=8YFLogxK
U2 - 10.3109/03630269709000666
DO - 10.3109/03630269709000666
M3 - Article
C2 - 9255612
AN - SCOPUS:0030742509
VL - 21
SP - 331
EP - 344
JO - Hemoglobin
JF - Hemoglobin
SN - 0363-0269
IS - 4
ER -