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T Meloni, G Pilo, L Camardella, F Cancedda, A Lania, G Pepe and L Luzzatto
In each of two families from Sardinia, Italy, we have found segregation for
two alpha-chain hemoglobin variants, which we have identified as G
Philadelphia [alpha 68 (E17) Asn leads to Lys] and J Sardinia [alpha 50
(CE8) His leads to Asp], respectively. One family also shows segregation
for the beta-thalassemia trait. One subject in one family and two subjects
in the other family have in their red cells both hemoglobin variants, G and
J, in addition to HbA. One of the subjects, a newborn baby, has six major
hemoglobin components; alpha 2A beta 2, alpha 2A gamma 2, alpha 2G beta 2,
alpha 2G gamma 2, alpha 2J beta 2, alpha 2J gamma 2. These three cases are
to be added to three previous cases in the literature in whom three
different alpha-chains have been found in the same blood. These findings
prove that the alpha-chain locus is duplicated in the Sardinian population,
as it is in other populations. The relative amounts of the various
hemoglobin species found in members of our two families, through three and
four generations respectively, suggest that chromosomes with and without
duplication may coexist in the same population.
This article has been cited by other articles:
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| Copyright © 1980 by American Society of Hematology Online ISSN: 1528-0020 | |||||||||
