We describe a severe case of hemoglobin H disease due to deletions of variable extent of both upstream alpha-globin gene regulatory regions, with all 4 downstream alpha-genes intact. The patient lacks MCS-R2 in both chromosomes, and MCS-R1, and MCS-R3 in one chromosome. This report adds significant information on the control of the alpha-gene cluster, proving that the complete loss of the major regulatory MCS-R2 element severely downregulates the expression of the alpha-globin genes, but is not associated with a complete absence of alpha-chain production.
Homozygous deletion of the major alpha-globin regulatory element (MCS-R2) responsible for a severe case of hemoglobin H disease.
PAGLIETTI, MARIA ELISABETTA;
2010-01-01
Abstract
We describe a severe case of hemoglobin H disease due to deletions of variable extent of both upstream alpha-globin gene regulatory regions, with all 4 downstream alpha-genes intact. The patient lacks MCS-R2 in both chromosomes, and MCS-R1, and MCS-R3 in one chromosome. This report adds significant information on the control of the alpha-gene cluster, proving that the complete loss of the major regulatory MCS-R2 element severely downregulates the expression of the alpha-globin genes, but is not associated with a complete absence of alpha-chain production.
I metadati presenti in IRIS UNICA sono rilasciati con licenza Creative Commons CC0 1.0 Universal, mentre i file delle pubblicazioni sono protetti da diritto d'autore, salvo diversa indicazione.
