Alpha-Thalassemia
Initiation codon (A->G); ATG->GTG of an alpha2alpha1 hybrid gene -alpha(-3.7 kb)
Initiation codon (two nts in 5' deleted);
Initiation codon (T->C); ATG->ACG of the alpha2 gene
Initiation codon (-T); ATG->A-G of the alpha2 gene
Initiation codon (A->G); ATG->GTG of the alpha1 gene
T->A at codon 14; TGG->AGG on an alpha-thal-2 chromosome [-alpha(Ev)]
CTG->CCG at codon 29 of the alpha2 gene
Codons 30/31 (GAG·AGG->GAG·- -G) on an alpha-thal-2 globin gene [-alpha(T)]
IVS-I donor site (GAG·GTG·AGG->GAG·G- - - - -); alpha2-globin gene; also known as alpha-thal-2 (-5nt)
IVS-I-116 (A->G) alpha2 gene;
IVS-I-117 (G->A) alpha1 gene;
Codons 38/39 [-ACC (Thr)]; deleted from the alpha1-globin gene
Deletion of 13 nts from codons 51-55 of the alpha1 gene;
G->A at codon 59 of the alpha1 gene; GGC->GAC
G->A at codon 104 of the alpha2 gene; TGC->TAC
T->G at codon 109 of the alpha2 gene; CTG->CGG
C->A at codon 110; alpha2 or alpha1 gene; GCC->GAC
Deletion of 12 nts from codons 112-116 of the alpha2 gene;
G->T at codon 116 of the alpha2 gene; GAG->TAG
T->C at codon 125 of the alpha2 gene; CTG->CCG
T->C at codon 129 of the alpha2 gene; CTG->CCG
G->C at codon 130 of the alpha2 gene; GCT->CCT
T->C at codon 131 of the alpha2 gene; TCT->CCT
TAA->CAA at codon 142 of the alpha2 gene
TAA->TCA at codon 142 of the alpha2 gene
TAA->AAA at codon 142 of the alpha2 gene
TAA->GAA at codon 142 of the alpha2 gene
TAA->TAT at codon 142 of the alpha2 gene
AATAAA->AATAAG of the alpha2 gene (poly A signal)
AATAAA->AATGAA of the alpha2 gene (poly A signal)
AATAAA->AATA-- of the alpha2 gene (poly A signal)
3'UTR (-16 bp) alpha2 gene
2.7 kb deletion involving the alpha1 gene
3.5 kb deletion involving the alpha1 gene
3.7 kb (type I) deletion involving the 3' part of the alpha2 gene and 5' part of the alpha1 gene
3.7 kb (type II) deletion involving the 3' part of the alpha2 gene and 5' part of the alpha1 gene
3.7 kb (type III) deletion involving the 3' part of the alpha2 gene and 5' part of the alpha1 gene
4.2 kb deletion involving the alpha2 gene
5.3 kb deletion; (see Fig. 21)
18 kb deletion; (see Fig. 22)
-(alpha)5.2; deletion of 5,201 bp (see Fig. 24)
- -(GEO); 8.5 kb deletion including the alpha2- and alpha1- globin genes (see Fig. 24)
- -(SPAN); deletion of 10.5-12.0 kb including both alpha-globin genes (see Fig. 24)
- -(CANT); a deletion of 14.0-15.4 kb removing both alpha-globin genes (see Fig. 24 for location)
- -(SEA); deletion of ~20 kb including both alpha-globin genes (see Fig. 24 for location)
- -(MED-I); deletion of ~17.5 kb including both alpha-globin genes (see Fig. 24 for location)
-(alpha)20.5; this 20.5 kb deletion involves the entire alpha2 and the 5' end of the alpha1 gene (see Fig. 24)
- -(MA); deletion of ~22 kb involving both alpha genes (see Fig. 24)
- -(SA); deletion of 22.8-23.7 kb involving both alpha-globin genes (see Fig. 24)
- -(BRIT); deletion of ~26 kb involving both alpha genes (see Fig. 24)
- -(CI); deletion of +27 kb including both alpha genes (see Fig. 24)
- -(CL); deletion of at least 40 kb involving the two alpha and the zeta genes (see Fig. 24)
- -(FIL); a deletion of 30-34 kb involving the alpha1, alpha2, and zeta genes (see Fig. 24)
- -(THAI); a deletion of 34-38 kb involving the alpha1, alpha2, and zeta genes (see Fig. 24)
- -(CAL); deletion of 32 kb involving both the alpha and the zeta genes (see Fig. 24)
- -(MED-II); a deletion of 26.5 kb involving the two alpha and the zeta genes (see Fig. 24)
- -(115 kb); a deletion of at least 115 kb removing the entire alpha gene complex
- -(80 kb); deletion of ~80 kb removing the entire alpha gene locus
- -(RT); a deletion of 36.5-40 kb removing the entire alpha gene locus (see Fig. 24)
- -(YEM); a deletion of +39 kb involving the two alpha genes (Fig. 24)
- -(MC); a deletion of at least 46 kb involving both alpha genes and the zeta gene (see Fig. 24)
This material is from the book
A Syllabus of Thalassemia Mutations (1997)
by Titus H.J. Huisman, Marianne F.H. Carver,
and Erol Baysal, published by
The Sickle Cell Anemia Foundation in Augusta, GA, USA.
Copyright © 1997 by Titus H.J. Huisman.
All rights reserved. Neither this work nor any part may be
reproduced or transmitted in any form or by any means,
electronic or mechanical, microfilming and recording, or by
any information storage and retrieval systems, without
permission in writing from the Author.