T
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RECOMMENDATIONS FOR NOMENCLATURE OF HEMOGLOBINS Submitted and reviewed by members o f t h e E d i t o r i a l Board*
General Rules
A.
Each hemoglobin w i l l be designated by a common name and a s c i e n t i f i c d e s i g n a t i o n .
B.
I n g e n e r a l , t h e common name w i l l be t h e one s e l e c t e d by t h e a u t h o r who d i s c o v e r e d t h e v a r i a n t .
C.
The s c i e n t i f i c d e s i g n a t i o n w i l l i n d i c a t e t h e s t r u c t u r a l a b n o r m a l i t y and w i l l d i f f e r e n t i a t e between p r o d u c t s o f n o n a l l e l i c genes, when a p p r o p r i a t e .
11.
Normal Hemoglobins
A. M a j o r Hemoglobins 1.
L e t t e r d e s i g n a t i o n s a r e accepted f o r t h e f o l l o w i n g normal hemoglobins:
A and F.
*
Comments by t h e r e a d e r s a r e encouraged and s h o u l d be s e n t t o t h e E d i t o r i a l S e c r e t a r y , L a b o r a t o r y o f P r o t e i n Chemistry, Medical C o l l e g e o f Georgia, Augusta, GA 30901 USA. 1
Copyright 0 1979 by Marcel Dekker, Inc. All Rights Reserved. Neither this work nor any part may be reproduced or transmitted in any form or by any means, electronic or mechanical, including photocopying, microfilming, and recording, or by any informatlon storage and retrieval system, without permission in writing from the publisher.
NOMENCLATURE OF HEMOGLOBINS
2
Hb A = Normal A d u l t Hemoglobin Hb F = Normal F e ta l Hemoglobin The use o f designations such as A,,
AI1
and Fo, FI
Hemoglobin Downloaded from informahealthcare.com by Flinders University of South Australia on 02/06/15 For personal use only.
i s discouraged. Sc i e n t if ic Des ignat ion
Comnon Name
B.
A
“282
F
“2Y 2
Minor Hemoglobins L e t t e r designations a re accepted f o r t h e f o l l o w i n g normal hemoglobins:
A2 and AI.
Hb A2 = t h e normal minor hemoglobin, slow-moving i n e l e c tro p h o re s i s a t a l k a l i n e pH. Hb A1 = t h e fast-moving zone i n e l e c t r o p h o r e s i s a t a1k a l i n e pH. The de s i g n a ti o n Hb A 3 w i l l no l o n g e r be used. Common Name
S c i e n t i f i c Designation
Hb Ap
a262
The components o f Hb AI:
AIay
AIb9 AIc.
AIdy
AIe,
a.0.
The components o f t h e s u b fra c ti o n s o f these hemoglobins: AI a’ * 1 a l y A Ia 2 ’ AIa3’ a’o’ This ty p e o f d e s i g n a ti o n would a l s o be used f o r o t h e r minor hemoglobins such as FI~, Fib, FIc
SIC, e t c . when they a r e found t o e x i s t .
and SIa,
SIbY
NOMENCLATURE OF HEMOGLOBINS C.
3
Embryonic Hemoglobins Two embryonic chains have been discovered; t h e 5 c h a i n
i s r e l a t e d t o t h e a c h a i n and t h e
Hemoglobin Downloaded from informahealthcare.com by Flinders University of South Australia on 02/06/15 For personal use only.
6, o r y c h a i n .
E
Embryonic hemoglobins r e c o g n i z e d a r e :
Common Name
S c i e n t i f i c Designation
Hb Gower-I
62CZ
Hb Gower-I1
a2E2
Hb P o r t 1 a n d - I
111.
c h a i n t o t h e 6,
%Y2
Abnormal Hemoglobins
A.
General Names
1. L e t t e r d e s i g n a t i o n s w i l l be a c c e p t a b l e o n l y f o r t h e following variants:
2.
Hb C, Hb E, Hb S,and Hb H.
O t h e r hemoglobins w i t h a l e t t e r d e s i g n a t i o n w i l l have t h i s l e t t e r f o l l o w e d by a name.
T h i s name w i l l
p r e f e r a b l y r e f e r t o the country, c i t y , o r o t h e r l o c a l i t y where t h e v a r i a n t was f i r s t observed. are:
Hb C-Harlem and Hb E-Saskatoon.
Examples
Most hemoglobins
w i l l c o n t i n u e t o be i d e n t i f i e d by name d e s i g n a t i o n s only.
Examples a r e :
Hb Malmo, Hb Bibba, a.0.
B . S c i en t i f i c Designations l a . Hemoglobins w i t h s i n g l e m u t a t i o n s i n t h e a o r 8 chain. It i s proposed t h a t i n s t e a d o f t h e t r a d i t i o n a l f o r m u l a a2B2, o n l y t h e v a r i a n t chain,
r e s i d u e number (sequen-
NOMENCLATURE OF HEMOGLOBINS
4
t i a l and helical) and the mfno acid substitution be
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indicated w i t h o u t the use of superscripts.
Common Name
Sci enti f i c Designation
Hb S
f36(A3) G1 u+Val
Hb C-Harlem
86(A3) Glu+Val; 73(E17) Asp+Asn
Hb G-phi ladel p h i a
a68( E17) Asn-tlys
Hb A2 variants w i t h abnormal cx chains will be designated
similarly, b u t i t s nomenclature will always be preceded by the designation Hb A2.
Common Name
Scientific Designation
Hb A2-G-Philadelphia
A2-cx68(E17) Asn+Lys
The terminology G2, 12, J2, etc. will no longer be used. Hybrid hemoglobins containing a variant cx and a variant f3 chain will identify the two variations in the common
name as well as i n the s c i e n t i f i c designation.
Example:
Comnon Name
Sci en t i f i c Des i gna t i on
Hb S-G-Philadelphia
a68(E17) Asn-tlys; f36(A3)
G1 u+Val Hb C-G-Georgia
cx95(G2) Pro-tleu; B6(A3) G1 u4ys
The terminology SG, will no longer be used. l b . Methemoglobins
The l e t t e r M will be retained f o r abnormal hemoglobins t h a t have an increased tendency t o methemoglobin
5
NOMENCLATURE OF HEMOGLOBINS
f o r m a t i o n and a r e t h e r e f o r e a s s o c i a t e d w i t h methemo-
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g l o b i nemi a.
2.
Common Name
S c i e n t i f i c Designation
Hb M-Boston
a58( E7) His-tLys
Hb M-Iwate
a87( F8) His+Tyr
Hb M-Saskatoon
863(E7) His+Tyr
Hb M-Mi lwaukee
867(E11) V a l G l u
Hb M-Hyde Park
892( F8) His+Tyr
D e l e t i o n Hemoglobins The m i s s i n g r e s i d u e ( s ) and t h e i r h e l i c a l p o s i t i o n s
w i l l be l i s t e d . Common Name
S c i e n t i f i c Desi g n a t i on
Hb F r e i b u r g
B23(B5) m i s s i n g
Hb T o c h i g i
856-59 (D7-E3) m i s s i n g
When more than one r e s i d u e i s i n v o l v e d i n t h e d e l e t i o n , t h e f i r s t number i n d i c a t e s t h e f i r s t m i s s i n g r e s i d u e and t h e l a s t number i n d i c a t e s t h e l a s t r e s i d u e m i s s i n g i n that series. 3.
Fusion Hemoglobins Hemoglobins c o n t a i n ng chains which cons s t o f segments o f chains w i l l be designated i n such a manner t h a t t h e segments r e f e r r i n g t o t h e t y p e o f chains a r e
id e n t i f ied .
NOMENCLATURE OF HEMOGLOBINS
6
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Common Name
4.
S c i e n t i f i c Designation
Hb Lepore-Bos t o n
a ( 1-87)@(115-146)
Hb Miyada
B( 1-12)6 (22-146)
Hb Kenya
y ( 1-81) @ (86- 146)
Elongated Hemoglobins Since elongation o f hemoglobins may be due t o nonhomologous crossing-over,
frameshifts, o r mutation
o f a t e r m i n a t i n g codon and/or o t h e r changes, a type o f nomenclature needs t o be devised which would d i f f e r e n t i a t e between these various methods o f termination. a.
Var ants w i t h elongated
ci
or
6 chains which are
due t o a mutation o f t h e t e r m i n a t i n g codon w i l l be
i s t e d by naming the number of a d d i t i o n a l
residues found a t t h e carboxy terminus (C), and t h e residue i n p o s i t i o n 142 f o r t h e a chain and i n p o s i t i o n 147 f o r t h e 8 chain.
b.
Examples:
Common Name
S c i e n t i f i c Designation
Hb Constant Spring
~1
t 31C (142Gln)
Hb Koya Dora
~1
+ 31C (142Ser)
Hb I c a r i a
ci
+ 31C ( 1 4 2 L y ~ )
Variants w i t h an i n s e r t i o n w i l l be i d e n t i f i e d by a l i s t i n g o f t h e residues and p o s i t i o n s involved.
7
NOMENCLATURE OF HEMOGLOBINS Comon Name
S c i e n t i f i c Designation
Hb Grady
a(+Glu,Phe,Thr
between normal
115 and normal 116)
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c.
Variants w i t h elongated
c1
o r B chains which are
due t o f r a m e s h i f t s . Comon Name
Sci e n t i f i c Designation
Hb Wayne
a(l-l38)(139Asn,
140Thr,
141Val) + 5C 5.
Abnormal F e t a l Hemoglobins Since Hb F i s heterogeneous due t o t h e presence o f a t l e a s t two n o n a l l e l i c genes t h e d e s i g n a t i o n w i l l i n c l u d e t h e t y p e o f y c h a i n which i s present.
4,
Comnon Name
S c i e n t i f i c Designation
Hb F-Texas-I
%5(A2)Glu+Lys
Hb F-Malta-I
G y l1 7 (G19) H i s+Arg
i n d i c a t e s t h e chain w i t h an a l a n y l r e s i d u e a t p o s i t i o n
136 and
5 r e f e r s t o t h e chain w i t h
t h i s position.
a glycyl residue a t
Another heterogeneity can e x i s t a t
p o s i t i o n 75 o f t h e Ay c h a i n ( e i t h e r i s o l e u c i n e o r t h e r o n i n e ) . These two chains and t h e corresponding Gy chain are i d e n t i f i e d as f o l l o w s :
Common Name
S c i e n t i f i c Designation
%I
y75( E19) I l e ; 136( H14)Ala
AUT
y75(E19)Thr; 136(H14)Ala
GY1
y75( E19) I l e ; 136(H14)Gly
NOMENCLATURE OF HEMOGLOBINS
8
6.
Abnormal 6 Chain V a r i a n t s The nomenclature o f t h e s e v a r i a n t s w i l l f o l l o w t h a t o f t h e a and $ c h a i n v a r i a n t s ; t h e y w i l l always be
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preceded by t h e d e s i g n a t i o n Hb A2.
7.
Common Name
S c i e n t i f i c Designation
Hb A2-Flatbush
622( B4)Ala+Glu
Hb A2-Indonesia
669 ( E 19 ) G1y-+Arg
Non-a Chain C o n t a i n i n g Hemoglobins Common Name
IV
S c i e n t i f i c Designation
Hb H
B4
Hb B a r t ' s
Y4
No common name assigned
6,
Recommended Nomenclature f o r Related Anomalies A.
H e r e d i t a r y P e r s i s t a n c e o f F e t a l Hemoglobin (HPFH) Some a r e i l l - d e f i n e d and many sub-groups a r e named a f t e r t h e l o c a t i o n o f t h e f a m i l y i n which t h e c o n d i t i o n was f i r s t discovered.
Examples are:
HPFH ( A t l a n t a
t y p e ) ; HPFH ( S e a t t l e t y p e ) ; HPFH ( S w i t z e r l a n d t y p e ) ; HPFH (Kenya t y p e ) ; HPFH (South C a r o l i n a t y p e ) a.0. Nomenclature can a l s o be based on t h e t y p e ( s ) o f y chain(s) t h a t i s (are) present. %-HPFH,
G?(-HPFH,
Examples are:
G&-HPFH.
I n some types o f HPFH, p r o d u c t i o n o f B (and 6 ) chains i s p r e s e n t -i n c i s t o t h e HPFH determinant;
9
NOMENCLATUXE OF HEMOGLOBINS such a subtype should be i n d i c a t e d as B+-HPFH i n c o n t r a s t t o t h e Bo-HPFH w i t h o u t B (and 6 ) chains i n cis. --
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I t i s suggested t o i n d i c a t e t h e t y p e ( s ) o f c h a i n ( s )
f i r s t , t h e n f o l l o w e d by a geographical i n d i c a t i o n . Exampl es : Gy-~O-HPFH ( I n d i a t y p e ) Gy-B+-HPFH (South Carol ina t y p e ) \-?-HPFH
(Greece t y p e )
$-Bt-HPFH Gy\-~+-HPFH
( B r i t a i n type) (Switzerland type)
G y - y B - ~ o - H P F H (Kenya t y p e ) B.
a.0.
Beta-Thalassemia i s s u b d i v i d e d i n t o two m a j o r subgroups i n d i c a t i n g t h e presence o r absence o f B c h a i n p r o d u c t i o n
_ i n -c i s t o t h e B-thalassemia d e t e r m i n a n t .
These a r e
BO-Thalassemia and @+-Thalassemia. C.
D e l t a - B e t a Thalassemia i s s u b d i v i d e d i n t o two groups depending upon t h e t y p e ( s ) o f y c h a i n ( s ) which i s ( a r e ) produced.
These a r e :
GyAy-doBo-Thalassemia
and Gy-GoBo-Thalassemia. D.
D t l ta-Thalassemia i s i n d i c a t e d
7s
6'-Thalassemia.
E. Gamma-Thalassemia i s i n d i c a t e d as AyO-Thalassemia and as Gyo-Thalassemia.
NOMENCLATURE OF HEMOGLOBINS
10
The subgroup nomenclature depends upon t h e t y p e o f y c h a i n which i s m i s s i n g and
not upon
the type o f
y c h a i n which i s produced.
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F.
A1 pha-Thal assemi a.
Two subgroups a r e recognized,
as f o l l o w s : a-Thalassemia-1 o r aoao/aaand a-Thalassemia 2
or
aoa/aa
ao i n d i c a t e s t h e absence o f an a c h a i n s t r u c t u r a l
gene o r t h e presence o f a n o n - f u n c t i o n i n g a c h a i n s t r u c t u r a l gene.
There i s no d e f i n i t e i n f o r m a t i o n
a v a i l a b l e about possible differences i n t h e a c t i v i t i e s o f d u p l i c a t e d a c h a i n l o c i ; t h e r e f o r e t h e r e i s no d i f f e r e n t i a t i o n made between t h e two. The homozygous s t a t e o f a-Thalassemia-1 i s i n d i c a t e d as Hydrops F e t a l i s o r a o a o / a o a o . The homozygous s t a t e o f a-Thal assemia-2 i s i n d i c a t e d as aoa/aoa. Hemoglobin H Disease, a h e t e r o z y g o s i t y f o r a-Thalassemia-1 as w e l l as a-Thalassemia-2, i s i n d i c a t e d as aoao/aoa.
V.
Animal Hemoglobins
No a t t e m p t has been made t o d i s t i n g u i s h between t h e nomenc l a t u r e s o f non-human and human hemoglobin types which has r e s u l t e d i n c o n s i d e r a b l e c o n f u s i o n .
A most i m p o r t a n t
NOMENCLATURE OF HEMOGLOBINS
11
r u l e i s t o require t h e name o r the f u l l s c i e n t i f i c name of t h e species as p a r t o f t h e nomenclature.
Below a r e some
suggestions.
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A.
Bovine Hemogl obi ns Bovine A [3(15Gly, 18Lys, ZOAsp, 43Ser, 119Lys, 131Lys) Bovine B B(15Ser, 18His, 20Asp, 43Ser, 119Asn, 131Lys) Bovine C B(15Gly, 18Lys, 2OAsp, 43Ser, 119Lys, 131Gln) Bovine D B(15Gly, 18Lys, 20Gly, 43Thr, 119Lys, 131Lys)
B.
Orangutan Orangutan-Ia( 57Asp) Orangutan-IIa( 57Gly)
Hemoglobin Downloaded from informahealthcare.com by Flinders University of South Australia on 02/06/15 For personal use only.
RECOMMENDATIONS FOR NOMENCLATURE OF HEMOGLOBINS Submitted and reviewed by members o f t h e E d i t o r i a l Board*
General Rules
A.
Each hemoglobin w i l l be designated by a common name and a s c i e n t i f i c d e s i g n a t i o n .
B.
I n g e n e r a l , t h e common name w i l l be t h e one s e l e c t e d by t h e a u t h o r who d i s c o v e r e d t h e v a r i a n t .
C.
The s c i e n t i f i c d e s i g n a t i o n w i l l i n d i c a t e t h e s t r u c t u r a l a b n o r m a l i t y and w i l l d i f f e r e n t i a t e between p r o d u c t s o f n o n a l l e l i c genes, when a p p r o p r i a t e .
11.
Normal Hemoglobins
A. M a j o r Hemoglobins 1.
L e t t e r d e s i g n a t i o n s a r e accepted f o r t h e f o l l o w i n g normal hemoglobins:
A and F.
*
Comments by t h e r e a d e r s a r e encouraged and s h o u l d be s e n t t o t h e E d i t o r i a l S e c r e t a r y , L a b o r a t o r y o f P r o t e i n Chemistry, Medical C o l l e g e o f Georgia, Augusta, GA 30901 USA. 1
Copyright 0 1979 by Marcel Dekker, Inc. All Rights Reserved. Neither this work nor any part may be reproduced or transmitted in any form or by any means, electronic or mechanical, including photocopying, microfilming, and recording, or by any informatlon storage and retrieval system, without permission in writing from the publisher.
NOMENCLATURE OF HEMOGLOBINS
2
Hb A = Normal A d u l t Hemoglobin Hb F = Normal F e ta l Hemoglobin The use o f designations such as A,,
AI1
and Fo, FI
Hemoglobin Downloaded from informahealthcare.com by Flinders University of South Australia on 02/06/15 For personal use only.
i s discouraged. Sc i e n t if ic Des ignat ion
Comnon Name
B.
A
“282
F
“2Y 2
Minor Hemoglobins L e t t e r designations a re accepted f o r t h e f o l l o w i n g normal hemoglobins:
A2 and AI.
Hb A2 = t h e normal minor hemoglobin, slow-moving i n e l e c tro p h o re s i s a t a l k a l i n e pH. Hb A1 = t h e fast-moving zone i n e l e c t r o p h o r e s i s a t a1k a l i n e pH. The de s i g n a ti o n Hb A 3 w i l l no l o n g e r be used. Common Name
S c i e n t i f i c Designation
Hb Ap
a262
The components o f Hb AI:
AIay
AIb9 AIc.
AIdy
AIe,
a.0.
The components o f t h e s u b fra c ti o n s o f these hemoglobins: AI a’ * 1 a l y A Ia 2 ’ AIa3’ a’o’ This ty p e o f d e s i g n a ti o n would a l s o be used f o r o t h e r minor hemoglobins such as FI~, Fib, FIc
SIC, e t c . when they a r e found t o e x i s t .
and SIa,
SIbY
NOMENCLATURE OF HEMOGLOBINS C.
3
Embryonic Hemoglobins Two embryonic chains have been discovered; t h e 5 c h a i n
i s r e l a t e d t o t h e a c h a i n and t h e
Hemoglobin Downloaded from informahealthcare.com by Flinders University of South Australia on 02/06/15 For personal use only.
6, o r y c h a i n .
E
Embryonic hemoglobins r e c o g n i z e d a r e :
Common Name
S c i e n t i f i c Designation
Hb Gower-I
62CZ
Hb Gower-I1
a2E2
Hb P o r t 1 a n d - I
111.
c h a i n t o t h e 6,
%Y2
Abnormal Hemoglobins
A.
General Names
1. L e t t e r d e s i g n a t i o n s w i l l be a c c e p t a b l e o n l y f o r t h e following variants:
2.
Hb C, Hb E, Hb S,and Hb H.
O t h e r hemoglobins w i t h a l e t t e r d e s i g n a t i o n w i l l have t h i s l e t t e r f o l l o w e d by a name.
T h i s name w i l l
p r e f e r a b l y r e f e r t o the country, c i t y , o r o t h e r l o c a l i t y where t h e v a r i a n t was f i r s t observed. are:
Hb C-Harlem and Hb E-Saskatoon.
Examples
Most hemoglobins
w i l l c o n t i n u e t o be i d e n t i f i e d by name d e s i g n a t i o n s only.
Examples a r e :
Hb Malmo, Hb Bibba, a.0.
B . S c i en t i f i c Designations l a . Hemoglobins w i t h s i n g l e m u t a t i o n s i n t h e a o r 8 chain. It i s proposed t h a t i n s t e a d o f t h e t r a d i t i o n a l f o r m u l a a2B2, o n l y t h e v a r i a n t chain,
r e s i d u e number (sequen-
NOMENCLATURE OF HEMOGLOBINS
4
t i a l and helical) and the mfno acid substitution be
Hemoglobin Downloaded from informahealthcare.com by Flinders University of South Australia on 02/06/15 For personal use only.
indicated w i t h o u t the use of superscripts.
Common Name
Sci enti f i c Designation
Hb S
f36(A3) G1 u+Val
Hb C-Harlem
86(A3) Glu+Val; 73(E17) Asp+Asn
Hb G-phi ladel p h i a
a68( E17) Asn-tlys
Hb A2 variants w i t h abnormal cx chains will be designated
similarly, b u t i t s nomenclature will always be preceded by the designation Hb A2.
Common Name
Scientific Designation
Hb A2-G-Philadelphia
A2-cx68(E17) Asn+Lys
The terminology G2, 12, J2, etc. will no longer be used. Hybrid hemoglobins containing a variant cx and a variant f3 chain will identify the two variations in the common
name as well as i n the s c i e n t i f i c designation.
Example:
Comnon Name
Sci en t i f i c Des i gna t i on
Hb S-G-Philadelphia
a68(E17) Asn-tlys; f36(A3)
G1 u+Val Hb C-G-Georgia
cx95(G2) Pro-tleu; B6(A3) G1 u4ys
The terminology SG, will no longer be used. l b . Methemoglobins
The l e t t e r M will be retained f o r abnormal hemoglobins t h a t have an increased tendency t o methemoglobin
5
NOMENCLATURE OF HEMOGLOBINS
f o r m a t i o n and a r e t h e r e f o r e a s s o c i a t e d w i t h methemo-
Hemoglobin Downloaded from informahealthcare.com by Flinders University of South Australia on 02/06/15 For personal use only.
g l o b i nemi a.
2.
Common Name
S c i e n t i f i c Designation
Hb M-Boston
a58( E7) His-tLys
Hb M-Iwate
a87( F8) His+Tyr
Hb M-Saskatoon
863(E7) His+Tyr
Hb M-Mi lwaukee
867(E11) V a l G l u
Hb M-Hyde Park
892( F8) His+Tyr
D e l e t i o n Hemoglobins The m i s s i n g r e s i d u e ( s ) and t h e i r h e l i c a l p o s i t i o n s
w i l l be l i s t e d . Common Name
S c i e n t i f i c Desi g n a t i on
Hb F r e i b u r g
B23(B5) m i s s i n g
Hb T o c h i g i
856-59 (D7-E3) m i s s i n g
When more than one r e s i d u e i s i n v o l v e d i n t h e d e l e t i o n , t h e f i r s t number i n d i c a t e s t h e f i r s t m i s s i n g r e s i d u e and t h e l a s t number i n d i c a t e s t h e l a s t r e s i d u e m i s s i n g i n that series. 3.
Fusion Hemoglobins Hemoglobins c o n t a i n ng chains which cons s t o f segments o f chains w i l l be designated i n such a manner t h a t t h e segments r e f e r r i n g t o t h e t y p e o f chains a r e
id e n t i f ied .
NOMENCLATURE OF HEMOGLOBINS
6
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Common Name
4.
S c i e n t i f i c Designation
Hb Lepore-Bos t o n
a ( 1-87)@(115-146)
Hb Miyada
B( 1-12)6 (22-146)
Hb Kenya
y ( 1-81) @ (86- 146)
Elongated Hemoglobins Since elongation o f hemoglobins may be due t o nonhomologous crossing-over,
frameshifts, o r mutation
o f a t e r m i n a t i n g codon and/or o t h e r changes, a type o f nomenclature needs t o be devised which would d i f f e r e n t i a t e between these various methods o f termination. a.
Var ants w i t h elongated
ci
or
6 chains which are
due t o a mutation o f t h e t e r m i n a t i n g codon w i l l be
i s t e d by naming the number of a d d i t i o n a l
residues found a t t h e carboxy terminus (C), and t h e residue i n p o s i t i o n 142 f o r t h e a chain and i n p o s i t i o n 147 f o r t h e 8 chain.
b.
Examples:
Common Name
S c i e n t i f i c Designation
Hb Constant Spring
~1
t 31C (142Gln)
Hb Koya Dora
~1
+ 31C (142Ser)
Hb I c a r i a
ci
+ 31C ( 1 4 2 L y ~ )
Variants w i t h an i n s e r t i o n w i l l be i d e n t i f i e d by a l i s t i n g o f t h e residues and p o s i t i o n s involved.
7
NOMENCLATURE OF HEMOGLOBINS Comon Name
S c i e n t i f i c Designation
Hb Grady
a(+Glu,Phe,Thr
between normal
115 and normal 116)
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c.
Variants w i t h elongated
c1
o r B chains which are
due t o f r a m e s h i f t s . Comon Name
Sci e n t i f i c Designation
Hb Wayne
a(l-l38)(139Asn,
140Thr,
141Val) + 5C 5.
Abnormal F e t a l Hemoglobins Since Hb F i s heterogeneous due t o t h e presence o f a t l e a s t two n o n a l l e l i c genes t h e d e s i g n a t i o n w i l l i n c l u d e t h e t y p e o f y c h a i n which i s present.
4,
Comnon Name
S c i e n t i f i c Designation
Hb F-Texas-I
%5(A2)Glu+Lys
Hb F-Malta-I
G y l1 7 (G19) H i s+Arg
i n d i c a t e s t h e chain w i t h an a l a n y l r e s i d u e a t p o s i t i o n
136 and
5 r e f e r s t o t h e chain w i t h
t h i s position.
a glycyl residue a t
Another heterogeneity can e x i s t a t
p o s i t i o n 75 o f t h e Ay c h a i n ( e i t h e r i s o l e u c i n e o r t h e r o n i n e ) . These two chains and t h e corresponding Gy chain are i d e n t i f i e d as f o l l o w s :
Common Name
S c i e n t i f i c Designation
%I
y75( E19) I l e ; 136( H14)Ala
AUT
y75(E19)Thr; 136(H14)Ala
GY1
y75( E19) I l e ; 136(H14)Gly
NOMENCLATURE OF HEMOGLOBINS
8
6.
Abnormal 6 Chain V a r i a n t s The nomenclature o f t h e s e v a r i a n t s w i l l f o l l o w t h a t o f t h e a and $ c h a i n v a r i a n t s ; t h e y w i l l always be
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preceded by t h e d e s i g n a t i o n Hb A2.
7.
Common Name
S c i e n t i f i c Designation
Hb A2-Flatbush
622( B4)Ala+Glu
Hb A2-Indonesia
669 ( E 19 ) G1y-+Arg
Non-a Chain C o n t a i n i n g Hemoglobins Common Name
IV
S c i e n t i f i c Designation
Hb H
B4
Hb B a r t ' s
Y4
No common name assigned
6,
Recommended Nomenclature f o r Related Anomalies A.
H e r e d i t a r y P e r s i s t a n c e o f F e t a l Hemoglobin (HPFH) Some a r e i l l - d e f i n e d and many sub-groups a r e named a f t e r t h e l o c a t i o n o f t h e f a m i l y i n which t h e c o n d i t i o n was f i r s t discovered.
Examples are:
HPFH ( A t l a n t a
t y p e ) ; HPFH ( S e a t t l e t y p e ) ; HPFH ( S w i t z e r l a n d t y p e ) ; HPFH (Kenya t y p e ) ; HPFH (South C a r o l i n a t y p e ) a.0. Nomenclature can a l s o be based on t h e t y p e ( s ) o f y chain(s) t h a t i s (are) present. %-HPFH,
G?(-HPFH,
Examples are:
G&-HPFH.
I n some types o f HPFH, p r o d u c t i o n o f B (and 6 ) chains i s p r e s e n t -i n c i s t o t h e HPFH determinant;
9
NOMENCLATUXE OF HEMOGLOBINS such a subtype should be i n d i c a t e d as B+-HPFH i n c o n t r a s t t o t h e Bo-HPFH w i t h o u t B (and 6 ) chains i n cis. --
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I t i s suggested t o i n d i c a t e t h e t y p e ( s ) o f c h a i n ( s )
f i r s t , t h e n f o l l o w e d by a geographical i n d i c a t i o n . Exampl es : Gy-~O-HPFH ( I n d i a t y p e ) Gy-B+-HPFH (South Carol ina t y p e ) \-?-HPFH
(Greece t y p e )
$-Bt-HPFH Gy\-~+-HPFH
( B r i t a i n type) (Switzerland type)
G y - y B - ~ o - H P F H (Kenya t y p e ) B.
a.0.
Beta-Thalassemia i s s u b d i v i d e d i n t o two m a j o r subgroups i n d i c a t i n g t h e presence o r absence o f B c h a i n p r o d u c t i o n
_ i n -c i s t o t h e B-thalassemia d e t e r m i n a n t .
These a r e
BO-Thalassemia and @+-Thalassemia. C.
D e l t a - B e t a Thalassemia i s s u b d i v i d e d i n t o two groups depending upon t h e t y p e ( s ) o f y c h a i n ( s ) which i s ( a r e ) produced.
These a r e :
GyAy-doBo-Thalassemia
and Gy-GoBo-Thalassemia. D.
D t l ta-Thalassemia i s i n d i c a t e d
7s
6'-Thalassemia.
E. Gamma-Thalassemia i s i n d i c a t e d as AyO-Thalassemia and as Gyo-Thalassemia.
NOMENCLATURE OF HEMOGLOBINS
10
The subgroup nomenclature depends upon t h e t y p e o f y c h a i n which i s m i s s i n g and
not upon
the type o f
y c h a i n which i s produced.
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F.
A1 pha-Thal assemi a.
Two subgroups a r e recognized,
as f o l l o w s : a-Thalassemia-1 o r aoao/aaand a-Thalassemia 2
or
aoa/aa
ao i n d i c a t e s t h e absence o f an a c h a i n s t r u c t u r a l
gene o r t h e presence o f a n o n - f u n c t i o n i n g a c h a i n s t r u c t u r a l gene.
There i s no d e f i n i t e i n f o r m a t i o n
a v a i l a b l e about possible differences i n t h e a c t i v i t i e s o f d u p l i c a t e d a c h a i n l o c i ; t h e r e f o r e t h e r e i s no d i f f e r e n t i a t i o n made between t h e two. The homozygous s t a t e o f a-Thalassemia-1 i s i n d i c a t e d as Hydrops F e t a l i s o r a o a o / a o a o . The homozygous s t a t e o f a-Thal assemia-2 i s i n d i c a t e d as aoa/aoa. Hemoglobin H Disease, a h e t e r o z y g o s i t y f o r a-Thalassemia-1 as w e l l as a-Thalassemia-2, i s i n d i c a t e d as aoao/aoa.
V.
Animal Hemoglobins
No a t t e m p t has been made t o d i s t i n g u i s h between t h e nomenc l a t u r e s o f non-human and human hemoglobin types which has r e s u l t e d i n c o n s i d e r a b l e c o n f u s i o n .
A most i m p o r t a n t
NOMENCLATURE OF HEMOGLOBINS
11
r u l e i s t o require t h e name o r the f u l l s c i e n t i f i c name of t h e species as p a r t o f t h e nomenclature.
Below a r e some
suggestions.
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A.
Bovine Hemogl obi ns Bovine A [3(15Gly, 18Lys, ZOAsp, 43Ser, 119Lys, 131Lys) Bovine B B(15Ser, 18His, 20Asp, 43Ser, 119Asn, 131Lys) Bovine C B(15Gly, 18Lys, 2OAsp, 43Ser, 119Lys, 131Gln) Bovine D B(15Gly, 18Lys, 20Gly, 43Thr, 119Lys, 131Lys)
B.
Orangutan Orangutan-Ia( 57Asp) Orangutan-IIa( 57Gly)
