Different geographic origins of Hb Constant Spring [alpha(2) codon 142 TAA-->CAA].
OBJECTIVE
The occurrence of Hb CS is usually limited to the geographic area which includes Southern China and South East Asia. In 1968 Hb CS was also found to occur in the Mediterranean area where it was originally described as Hb Athens. We investigated the independent origin of these termination codon mutations of the alpha 2-globin gene by determining the alpha-cluster haplotype and comparing the hematologic data from Hb CS-Hb H patients and their family members.


METHODS
We studied one Hb CS-Hb H patient of Greek origin and a Sicilian family in which one individual was affected by Hb CS-Hb H. The haplotype of the Hb CS allele was determined and compared to the haplotype of an Hb CS-Hb H individual of Chinese origin.


RESULTS
The haplotype found for the Greek and Sicilian Hb CS was the same but differed significantly from the Asiatic Hb CS mutation.


CONCLUSIONS
The Hb CS mutation found in both Mediterranean patients arose independently in the Mediterranean area. The difference in clinical manifestation of the Hb CS-Hb H disease in both patients is less common but consistent with similar variation in the clinical expression of analogous Hb Icaria-Hb H disease patients.
Harteveld
C L
CL
Department of Human and Clinical Genetics, Leiden University Medical Center, Wassenaarseweg 72, 2333AL, Leiden, The Netherlands. keesh@lumc.nl
Traeger-Synodinos
J
J
Ragusa
A
A
Fichera
M
M
Kanavakis
E
E
Kattamis
C
C
Giordano
P
P
Schilirò
G
G
Bernini
L F
LF
D002681:China; D018388:Codon, Terminator / Q000235:genetics; D005192:Family Health; D005260:Female; D006115:Greece; D006239:Haplotypes; D006455:Hemoglobins, Abnormal / Q000235:genetics*; D006801:Humans; D008297:Male; D017354:Point Mutation; D012802:Sicily
D018388:Codon, Terminator; D006455:Hemoglobins, Abnormal; C035541:Hemoglobin Constant Spring