Table XXII

TABLE XXII.

Some Hematological and Hemoglobin Composition Data for Patients With Different Types of Hb H Disease (average values)[1]

Genotype[2] n Hb
g/dl MCV
fl MCH
pg Hb A₂
% Hb H
% Population(s)

A.   Deletional Alpha-Thal-1 and Deletional Alpha-Thal-2 (- -/-alpha)

- -(undefined)/-alpha(3.7) 14 9.7 64.0 18.5 0.7 9.3 Mediterranean

- -(MED-I)/-alpha(3.7) 44 9.6 63.1 18.1 1.1 5.5 Cyprus

- -(MED-I)/-alpha(3.7) 5 9.5 58.2 - 1.4 4.0 Turkey

-(alpha)20.5/-alpha(3.7) 12 9.9 64.7 18.2 1.1 7.2 Cyprus

-(alpha)20.5/-alpha(3.7) 6 10.3 65.5 - 1.4 13.5 Turkey

- -(MED-II)/-alpha(3.7) 2 7.9 61.1 15.1 0.5 3.8 Cyprus

- -(MED-II)/-alpha(3.7) 3 11.0 64.5 - 1.1 10.7 Turkey

- -(SA)/-alpha(3.7) 5 8.2 62.8 18.6 0.5 5.6 South Africa

- -(SEA)/-alpha(3.7) 14 8.4 - - 1.4 9.0 China

- -(SEA)/-alpha(3.7) 5 9.0 63.5 18.3 1.1 6.7 Malaysia

- -(SEA)/-alpha(2.7) 2 7.8 - - 0.5 3.5 China

- -(undefined)/-alpha(4.2) 3 9.4 62.8 16.8 1.2 5.4 Mediterranean

- -(MED-I)/-alpha(4.2) 2 9.1 65.5 - 1.4 10.7 Turkey

-(alpha)20.5/-alpha(4.2) 1 8.1 61.0 - 1.3 4.4 Turkey

- -(SA)/-alpha(4.2) 2 8.8 61.7 18.1 0.7 2.8 South Africa

- -(SEA)/-alpha(4.2) 14 7.8 - - 1.8 10.6 China

- -(SEA)/-alpha(4.2) 1 7.1 69.0 21.3 1.2 6.1 Malaysia

- -(THAI)/-alpha(4.2) 2 7.3 - - 0.9 11.1 China

B.   Deletional Alpha-Thal-1 and Nondeletional Alpha-Thal-2 [- -/alpha(T)alpha]

- -(SEA)/alpha(CS)alpha 25 7.2 - - 3.2 12.1 China

- -(SEA)/alpha(CS)alpha 6 7.5 72.0 19.8 1.2 15.8 Malaysia

- -(undefined)/alpha(Ic)alpha 1 8.6 71.0 15.9 0.9 16.0 Macedonia

- -(undefined)/alpha(5nts)alpha 4 8.5 69.5 17.9 0.6 28.0 Mediterranean

- -(MED-I)/alpha(5nts)alpha 1 8.2 64.0 - 0.5 28.0 Turkey

- -(MED-I)/alpha(5nts)alpha 12 9.3 71.4 18.1 0.7 21.9 Cyprus

-(alpha)20.5/alpha(5nts)alpha 3 8.4 69.0 - 0.8 24.7 Turkey

- -(undefined)/alpha(PA-2)alpha 5 9.7 71.5 18.9 0.9 10.0 Mediterranean

- -(undefined)/alpha(PA-1)alpha 2 9.5 65.4 17.5 0.9 15.0 Mediterranean

- -(MED-I)/alpha(PA-2)alpha 2 9.6 70.2 16.8 0.5 7.6 Cyprus

-(alpha)20.5/alpha(PA-2)alpha 1 9.5 65.4 18.7 0.8 14.5 Cyprus

-(alpha)20.5/alpha(PA-2)alpha 1 8.1 55.0 - 0.8 12.0 Turkey

- -(MED-II)/alpha(PA-2)alpha 1 9.7 65.0 16.2 0.9 14.4 Cyprus

C.   Deletional Alpha-Thal-1 and Alpha Chain Variant (unstable) [- -alpha(X)alpha or - -/alphaalpha(X)]

- -(SEA)/alpha(QS)alpha 3 7.5 - - 1.0 20.8 China

-(alpha)20.5/alphaalpha(Adana) 2 6.7 99.6 23.1 1.3 10.3[3] Turkey

D.   Nondeletional Alpha-Thal Homozygotes

alpha(PA-2)alpha/alpha(PA-2)alpha 2 6.8 68.0 - 0.8 14.0 Turkey

alpha(PA-1)alpha/alpha(PA-1)alpha 7 8.4 77.0 18.8 0.9 17.0 Cyprus

alpha(PA-1)alpha/alpha(PA-1)alpha 3 9.5 82.0 18.9 0.7 17.3 Cyprus

alpha(PA-1)alpha/alpha(PA-1)alpha 13 9.8 66.5 17.3 1.8 n.d. Kuwait

Genotype[2]	n	Hb g/dl	MCV fl	MCH pg	Hb A₂ %	Hb H %	Population(s)
A. Deletional Alpha-Thal-1 and Deletional Alpha-Thal-2 (- -/-alpha)
- -(undefined)/-alpha(3.7)	14	9.7	64.0	18.5	0.7	9.3	Mediterranean
- -(MED-I)/-alpha(3.7)	44	9.6	63.1	18.1	1.1	5.5	Cyprus
- -(MED-I)/-alpha(3.7)	5	9.5	58.2	-	1.4	4.0	Turkey
-(alpha)20.5/-alpha(3.7)	12	9.9	64.7	18.2	1.1	7.2	Cyprus
-(alpha)20.5/-alpha(3.7)	6	10.3	65.5	-	1.4	13.5	Turkey
- -(MED-II)/-alpha(3.7)	2	7.9	61.1	15.1	0.5	3.8	Cyprus
- -(MED-II)/-alpha(3.7)	3	11.0	64.5	-	1.1	10.7	Turkey
- -(SA)/-alpha(3.7)	5	8.2	62.8	18.6	0.5	5.6	South Africa
- -(SEA)/-alpha(3.7)	14	8.4	-	-	1.4	9.0	China
- -(SEA)/-alpha(3.7)	5	9.0	63.5	18.3	1.1	6.7	Malaysia
- -(SEA)/-alpha(2.7)	2	7.8	-	-	0.5	3.5	China
- -(undefined)/-alpha(4.2)	3	9.4	62.8	16.8	1.2	5.4	Mediterranean
- -(MED-I)/-alpha(4.2)	2	9.1	65.5	-	1.4	10.7	Turkey
-(alpha)20.5/-alpha(4.2)	1	8.1	61.0	-	1.3	4.4	Turkey
- -(SA)/-alpha(4.2)	2	8.8	61.7	18.1	0.7	2.8	South Africa
- -(SEA)/-alpha(4.2)	14	7.8	-	-	1.8	10.6	China
- -(SEA)/-alpha(4.2)	1	7.1	69.0	21.3	1.2	6.1	Malaysia
- -(THAI)/-alpha(4.2)	2	7.3	-	-	0.9	11.1	China
B. Deletional Alpha-Thal-1 and Nondeletional Alpha-Thal-2 [- -/alpha(T)alpha]
- -(SEA)/alpha(CS)alpha	25	7.2	-	-	3.2	12.1	China
- -(SEA)/alpha(CS)alpha	6	7.5	72.0	19.8	1.2	15.8	Malaysia
- -(undefined)/alpha(Ic)alpha	1	8.6	71.0	15.9	0.9	16.0	Macedonia
- -(undefined)/alpha(5nts)alpha	4	8.5	69.5	17.9	0.6	28.0	Mediterranean
- -(MED-I)/alpha(5nts)alpha	1	8.2	64.0	-	0.5	28.0	Turkey
- -(MED-I)/alpha(5nts)alpha	12	9.3	71.4	18.1	0.7	21.9	Cyprus
-(alpha)20.5/alpha(5nts)alpha	3	8.4	69.0	-	0.8	24.7	Turkey
- -(undefined)/alpha(PA-2)alpha	5	9.7	71.5	18.9	0.9	10.0	Mediterranean
- -(undefined)/alpha(PA-1)alpha	2	9.5	65.4	17.5	0.9	15.0	Mediterranean
- -(MED-I)/alpha(PA-2)alpha	2	9.6	70.2	16.8	0.5	7.6	Cyprus
-(alpha)20.5/alpha(PA-2)alpha	1	9.5	65.4	18.7	0.8	14.5	Cyprus
-(alpha)20.5/alpha(PA-2)alpha	1	8.1	55.0	-	0.8	12.0	Turkey
- -(MED-II)/alpha(PA-2)alpha	1	9.7	65.0	16.2	0.9	14.4	Cyprus
C. Deletional Alpha-Thal-1 and Alpha Chain Variant (unstable) [- -alpha(X)alpha or - -/alphaalpha(X)]
- -(SEA)/alpha(QS)alpha	3	7.5	-	-	1.0	20.8	China
-(alpha)20.5/alphaalpha(Adana)	2	6.7	99.6	23.1	1.3	10.3[3]	Turkey
D. Nondeletional Alpha-Thal Homozygotes
alpha(PA-2)alpha/alpha(PA-2)alpha	2	6.8	68.0	-	0.8	14.0	Turkey
alpha(PA-1)alpha/alpha(PA-1)alpha	7	8.4	77.0	18.8	0.9	17.0	Cyprus
alpha(PA-1)alpha/alpha(PA-1)alpha	3	9.5	82.0	18.9	0.7	17.3	Cyprus
alpha(PA-1)alpha/alpha(PA-1)alpha	13	9.8	66.5	17.3	1.8	n.d.	Kuwait

[1]   Data are from Refs. 1, 2, 3, 4, 5, 6, 7, 8.
[2]   The different deletional alpha-thal-1 and alpha-thal-2 alleles have been defined earlier in this chapter. CS = Hb Constant Spring; Ic = Hb Icaria; QS = Hb Quong Sze; PA-2 = AATAAA->AATGAA; PA-1 = AATAAA->AATAAG.
[3]   This fast-moving component contains mainly Hb Bart's (gamma₄) and nearly no Hb H (beta₄).

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.