Table XVI

TABLE XVI.

Delta-Thalassemia Alleles Listed According to Functional Changes

Mutation Type Hb Variant Ethnic Groups

A.   Transcriptional mutants

-77, T->C delta° - Japanese

-65, A->G delta⁺ - Greeks; Cypriots

-55, T->C delta⁺ - Greeks; Cypriots

-36, C->A delta⁺ - In a Greek family

B.   RNA processing mutants; splice junction

Codon 30, G->C delta° Arg->Thr In an Italian family

IVS-I-2, T->C delta° - In an Italian family

IVS-II-897, A->G delta° - In a Greek Cypriot family

C.   RNA processing mutants; changes in coding regions

Codon 4, ACT->ATT delta⁺ Thr->Ile Greek Cypriots

Codon 98, GTG->ATG delta⁺ Val->Met In a Black family

Codon 116, CGC->TGC delta⁺ Arg->Cys In a Greek Cypriot family

Codon 141, CTG->CCG delta⁺ Leu->Pro In a Greek Cypriot family

D.   RNA translation mutants

Codon 37, TGG->TAG (stop) delta° - In a Sardinian family

Codon 59, -A (frameshift) delta° - In an Egyptian family

Codon 91, +T (frameshift) delta° - In a Belgian family

E.   Activation of cryptic splicing site

Codon 27, GCC->TCC delta⁺ Ala->Ser Sardinians; Greeks

F.   RNA cleavage and polyadenylation

Poly A + 69 nts, G->A ? - In a Sardinian family

G.   Deletion

Corfu, -7.2 kb delta° - In Italian and Greek families

Mutation	Type	Hb Variant	Ethnic Groups
A. Transcriptional mutants
-77, T->C	delta°	-	Japanese
-65, A->G	delta⁺	-	Greeks; Cypriots
-55, T->C	delta⁺	-	Greeks; Cypriots
-36, C->A	delta⁺	-	In a Greek family
B. RNA processing mutants; splice junction
Codon 30, G->C	delta°	Arg->Thr	In an Italian family
IVS-I-2, T->C	delta°	-	In an Italian family
IVS-II-897, A->G	delta°	-	In a Greek Cypriot family
C. RNA processing mutants; changes in coding regions
Codon 4, ACT->ATT	delta⁺	Thr->Ile	Greek Cypriots
Codon 98, GTG->ATG	delta⁺	Val->Met	In a Black family
Codon 116, CGC->TGC	delta⁺	Arg->Cys	In a Greek Cypriot family
Codon 141, CTG->CCG	delta⁺	Leu->Pro	In a Greek Cypriot family
D. RNA translation mutants
Codon 37, TGG->TAG (stop)	delta°	-	In a Sardinian family
Codon 59, -A (frameshift)	delta°	-	In an Egyptian family
Codon 91, +T (frameshift)	delta°	-	In a Belgian family
E. Activation of cryptic splicing site
Codon 27, GCC->TCC	delta⁺	Ala->Ser	Sardinians; Greeks
F. RNA cleavage and polyadenylation
Poly A + 69 nts, G->A	?	-	In a Sardinian family
G. Deletion
Corfu, -7.2 kb	delta°	-	In Italian and Greek families

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.