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

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.