Hereditary hemochromatosis
(HH)
Viola Chen
,Background Information
• Tr o u s s e a u , a F r e n c h p a t h o l o g i s t , w a s t h e f i r s t ▪ In 1996, Feder discovered that patients
to discover a patient with the description of s u f fe r i n g f r o m h e m o c h r o m a t o s i s w e r e
identified with C282Y mutation and HFE,
hemochromatosis in 1865. which were the leading causes of HH
(Bacon, 2024).
• Tw e n t y - f o u r y e a r s l a t e r, Vo n R e c k l i n g h a u s e n , a
German pathologist, was the first person to ▪ The early detection of hemochromatosis
introduce the term hemochromatosis. In 1935, o c c u r r e d i n F r a n c e a n d G e r m a n y. A t t h e
a British geriatrician, Joseph Sheldon, same time, HH was confirmed in the
United States, where the DNA samples
published a monograph with 311 known of patients with hemochromatosis were
hemochromatosis cases and concluded that t a ke n f o r f u r t h e r s t u d y. S c i e n t i s t s
hemochromatosis was an inherited disorder discovered Hereditary hemochromatosis
that caused excessive iron deposition (Bacon, through the pigmentation of tissues.
W h e n Vo n R e c k l i n g h a u s e n s a w t h e
2024).
pigmentation of tissue, he thought it
w a s “ C h r o m ”, a d i s o r d e r c a u s e d b y
• In 1976, Marcel Simon and his colleagues b l o o d c i r c u l a t i o n “ h e m o .” L a t e r, F e d e r e t
discovered that hemochromatosis was al. discovered that the mutation of
inherited as a recessive autosomal disorder C282Y of HFE was the cause of
Hereditary hemochromatosis (Bacon,
l i n ke d t o h u m a n l e u ko c y t e a n t i g e n ( H L A ) .
2024).
, Background of Hereditary hemochromatosis (HH)
H e re d i ta r y h e m o c h ro m ato s i s i s a ge n e ra l te r m fo r a ge n e t i c d i s o rd e r t h at refe rs to i ro n
a c c u m u l at i o n i n d i ffe re nt b o d y p a r t s . T h e m o st c o m m o n ge n e t i c d i s o rd e rs c l a s s i f i e d u n d e r H H
a re c l a s s i c h e re d i ta r y h e m o c h ro m ato s i s , h e m o c h ro m ato s i s t y p e I , a n d H F E - re l ate d
h e m o c h ro m ato s i s ( A d a m s , 2 0 1 5 ) .
H e re d i ta r y h e m o c h ro m ato s i s d i s o rd e r i s c o m m o n a m o n g t h e w h i te p o p u l at i o n o f N o r t h e r n
E u ro p e a n d e s c e nt . T h e p re va l e n c e o f t h e d i s o rd e r i s 1 i n 3 0 0 - 5 0 0 5 0 0 i n d i v i d u a l s ( Po r te r a n d
R aw l a , 2 0 2 3 ) . Ty p e 1 o f t h e d i s o rd e r a ffe c t s N o r t h e r n E u ro p e a n s l i ke t h e C e l t i c a n d
S ca n d i n av i a n , w h i l e 2 , 3 , a n d 4 a re s e e n wo r l d w i d e . M o re o ve r, t h e d i s o rd e r i s l e s s c o m m o n
a m o n g p e o p l e o f A f r i c a n d e s c e nt , w h i l e w h i te p e o p l e h ave a h i g h e r r i s k o f 6 t i m e s d e ve l o p i n g
t h e d i s o rd e r. T h e d i s o rd e r a ffe c t s m e n t h a n wo m e n b e c a u s e t h ey a re p ro n e to t h e r i s k 2 to 3
t i m e s . H e n c e , t h e rat i o o f m e n to wo m e n i s 1 . 8 1 to 3 . 1 ( Po r te r a n d R aw l a , 2 0 2 3 ) .
(HH)
Viola Chen
,Background Information
• Tr o u s s e a u , a F r e n c h p a t h o l o g i s t , w a s t h e f i r s t ▪ In 1996, Feder discovered that patients
to discover a patient with the description of s u f fe r i n g f r o m h e m o c h r o m a t o s i s w e r e
identified with C282Y mutation and HFE,
hemochromatosis in 1865. which were the leading causes of HH
(Bacon, 2024).
• Tw e n t y - f o u r y e a r s l a t e r, Vo n R e c k l i n g h a u s e n , a
German pathologist, was the first person to ▪ The early detection of hemochromatosis
introduce the term hemochromatosis. In 1935, o c c u r r e d i n F r a n c e a n d G e r m a n y. A t t h e
a British geriatrician, Joseph Sheldon, same time, HH was confirmed in the
United States, where the DNA samples
published a monograph with 311 known of patients with hemochromatosis were
hemochromatosis cases and concluded that t a ke n f o r f u r t h e r s t u d y. S c i e n t i s t s
hemochromatosis was an inherited disorder discovered Hereditary hemochromatosis
that caused excessive iron deposition (Bacon, through the pigmentation of tissues.
W h e n Vo n R e c k l i n g h a u s e n s a w t h e
2024).
pigmentation of tissue, he thought it
w a s “ C h r o m ”, a d i s o r d e r c a u s e d b y
• In 1976, Marcel Simon and his colleagues b l o o d c i r c u l a t i o n “ h e m o .” L a t e r, F e d e r e t
discovered that hemochromatosis was al. discovered that the mutation of
inherited as a recessive autosomal disorder C282Y of HFE was the cause of
Hereditary hemochromatosis (Bacon,
l i n ke d t o h u m a n l e u ko c y t e a n t i g e n ( H L A ) .
2024).
, Background of Hereditary hemochromatosis (HH)
H e re d i ta r y h e m o c h ro m ato s i s i s a ge n e ra l te r m fo r a ge n e t i c d i s o rd e r t h at refe rs to i ro n
a c c u m u l at i o n i n d i ffe re nt b o d y p a r t s . T h e m o st c o m m o n ge n e t i c d i s o rd e rs c l a s s i f i e d u n d e r H H
a re c l a s s i c h e re d i ta r y h e m o c h ro m ato s i s , h e m o c h ro m ato s i s t y p e I , a n d H F E - re l ate d
h e m o c h ro m ato s i s ( A d a m s , 2 0 1 5 ) .
H e re d i ta r y h e m o c h ro m ato s i s d i s o rd e r i s c o m m o n a m o n g t h e w h i te p o p u l at i o n o f N o r t h e r n
E u ro p e a n d e s c e nt . T h e p re va l e n c e o f t h e d i s o rd e r i s 1 i n 3 0 0 - 5 0 0 5 0 0 i n d i v i d u a l s ( Po r te r a n d
R aw l a , 2 0 2 3 ) . Ty p e 1 o f t h e d i s o rd e r a ffe c t s N o r t h e r n E u ro p e a n s l i ke t h e C e l t i c a n d
S ca n d i n av i a n , w h i l e 2 , 3 , a n d 4 a re s e e n wo r l d w i d e . M o re o ve r, t h e d i s o rd e r i s l e s s c o m m o n
a m o n g p e o p l e o f A f r i c a n d e s c e nt , w h i l e w h i te p e o p l e h ave a h i g h e r r i s k o f 6 t i m e s d e ve l o p i n g
t h e d i s o rd e r. T h e d i s o rd e r a ffe c t s m e n t h a n wo m e n b e c a u s e t h ey a re p ro n e to t h e r i s k 2 to 3
t i m e s . H e n c e , t h e rat i o o f m e n to wo m e n i s 1 . 8 1 to 3 . 1 ( Po r te r a n d R aw l a , 2 0 2 3 ) .
