| Test
Result Hb Type
|
Genetic
Implication |
Clinical
Implication |
GP
actions |
AF
(normal neonate)
NB: Hb F = 95% in newborn |
None |
None |
Neonate
result does not exclude Beta Thal trait. Retest at 1 year if indicated |
|
|
|
|
| AA
(Normal adult > 1 year old) NB: 95% of total adult Hb |
None |
None |
Give
Hb card |
|
|
|
|
| AS
(Sickle cell trait) |
May
pass on either Hb A or Hb S to offspring. If partner also has any
abnormal Hb there is a risk of children inheriting a disease state. |
None
(Healthy carrier) |
Offer
or refer for genetic counselling, Give Hb card |
|
|
|
|
| AC
(Haemoglobin C trait) |
May
pass on either Hb A or Hb C. If partner also has any abnormal Hb there
is a risk of children inheriting a disease state. |
None
(Healthy carrier) |
Offer
or refer for genetic counselling. Give Hb card. |
|
|
|
|
| AD
(Haemoglobin D trait) |
May
pass on either Hb A or Hb D to offspring. If partner also has any
abnormal Hb there is a risk of children inheriting a disease state. |
None
(Healthy carrier) |
Offer
or refer for genetic counselling. Give Hb card. |
|
|
|
|
| AE
(Haemoglobin E trait) |
May
pass on either Hb A or Hb E to offspring. If partner also has any
abnormal Hb there is a risk of children inheriting a disease state. |
Generally
healthy. Microcytic red cells. Do not give iron medication unless proven
iron deficiency. |
Offer
or refer for genetic counselling,Give
Hb card |
| Note:
In a newborn, all results will include haemoglobin F, e.g. AFS = sickle
cell trait, FS = sickle cell anaemia |
|
| A
+ raised Hb A2 (Beta Thalassaemia Minor also called Beta
Thalassaemia Trait) |
May
pass on either Hb A or Beta thalassaemia to offspring. If partner also
has any abnormal Hb or Beta thal there is a risk of children inheriting
a disease state. |
Generally
healthy. Microcytic, hypochromic red cells, mild anaemia. Do not give
iron medication unless proven iron deficiency. |
Offer
or refer for genetic counselling,Give
Hb card |
|
|
|
|
Probable
Alpha thal
(-a / -a
, -- / aa or -a
/ aa)
NB: normal is aa
/ aa |
May
pass on an alpha deletion. If partner also has any alpha deletion there
is a risk of children inheriting a disease state. Severity depends on
nature of a chain deletion. Definitive diagnosis depends on globin chain
synthesis or DNA analysis (this will be required for antenatal
counselling of "at risk" couples. |
Generally
healthy. Microcytic, hypochromic RBCs, mild anaemia. Do not give iron
medication unless proven iron deficiency. |
Offer
or refer for genetic counselling. Give Hb card. If couple are "at
risk", DNA analysis can be arranged by Nurse Specialist or
Haematologist |
|
|
|
|
| SS
(Sickle cell anaemia) |
Can
only pass on Hb S to offspring. If partner also has any abnormal Hb
there is a risk of children inheriting a disease state. |
Disease
state. Severe haemolytic anaemia, Hb range 6-8 g/dl. Prone to infection.
Episodes of sickling crisis pain, often managed at home with strong
analgesia. May need hospitalisation for severe crisis or management of
disease complications. |
Refer
for specialist counselling + Haematologist's care. Preventive care see
local NHS protocol. Give Hb card. |
|
|
|
|
| SC
(Sickle haemoglobin C disease) |
Can
pass on either Hb S or Hb C to offspring. If partner also has any
abnormal Hb there is a risk of children inheriting a disease state. |
Disease
state. Haemolytic anaemia, Hb range 8-10 g/dl. Clinical picture is often
milder than sickle cell anaemia, but can be as severe. |
Refer
for specialist counselling + Haematologist's care. Preventive care see
local NHS protocol. Give Hb card. |
|
|
|
|
| Sb
Thal (Sickle Beta Thalassaemia disease) |
Can
pass on Hb S or Beta thal to offspring. If partner also has any abnormal
Hb there is a risk of children inheriting a disease state. |
Disease
state. Haemolytic anaemia, Hb range 6-10 g/dl. Clinical picture is often
milder than sickle cell anaemia, but can be as severe. Often depends on
whether individual has inherited Sb+ or Sbo |
Refer
for specialist counselling + Haematologist's care. Preventive care see
local NHS protocol. Give Hb card. |
|
|
|
|
| SD
(Sickle haemoglobin D disease) |
Can
pass on Hb S or Hb D to offspring. If partner also has any abnormal Hb
there is a risk of children inheriting a disease state. |
Disease
state. Severe haemolytic anaemia. Hb range and clinical picture similar
to sickle cell anaemia. |
Refer
for specialist counselling + Haematologist's care. Preventive care see
local NHS protocol. Give Hb card. |
|
|
|
|
| CC
(Haemoglobin C disease) |
Can
only pass on Hb C to offspring. If partner also has any abnormal Hb
there is a risk of children inheriting a disease state. |
Disease
state. Mild haemolytic anaemia. Hb lower end of normal range.
Splenomegaly common feature. May have slight jaundice. Generally
healthy, but prone to infections. May need specialist care. |
Offer
or refer for specialist counselling + or - Haematologist's care. Give Hb
card. |
|
|
|
|
| bbThal
(Beta Thalassaemia Major) |
Can
only pass on beta thalassaemia to offspring. If partner also has any
abnormal Hb there is a risk of children inheriting a disease state. |
Disease
state. Severe haemolytic anaemia. Need life long blood transfusion and
iron chelation. First signs in infant: anaemia, D&V, failure to
thrive. Shortened life expectancy. |
Needs
specialist care from Haematologist. Give Hb card |
|
|
|
|
| DD
(Haemoglobin D disease) |
Can
only pass on Hb D to offspring. If partner also has any abnormal Hb
there is a risk of children inheriting a disease state. |
Disease
state. Mild haemolytic anaemia. Hb lower end of normal range.
Splenomegaly common feature. May have slight jaundice. Generally
healthy, but prone to infections. May need specialist care. |
Offer
or refer for specialist counselling + or - Haematologist's care. Give Hb
card. |
|
|
|
|
| EE
(Haemoglobin E disease) |
Can
only pass on Hb E to offspring. If partner also has any abnormal Hb
there is a risk of children inheriting a disease state. |
Disease
state with similar clinical picture to Hb CC disease. |
Offer
or refer for genetic counselling, and specialist medical care. Give Hb
card |
|
|
|
|
| EbThal
(Haemoglobin E Beta Thalassaemia) |
Can
pass on either Hb E or beta thalassaemia to offspring. If partner also
has any abnormal Hb there is a risk of children inheriting a disease
state. |
Disease
state with similar clinical picture to beta thalassaemia major. |
Refer
for genetic counselling. Needs specialist care from a haematologist.
Give Hb card. |
|
|
|
|
| --
/ -a (Haemoglobin H disease) |
Can
pass on an alpha deletion to offspring. If partner also has an alpha
deletion there is a risk of children inheriting a disease state. |
Disease
state. Generally well. Moderately severe haemolytic anaemia. May need
blood transfusion but rarely. May need splenectomy. |
Depends
on severity. Treat as Beta Thal Major (bb
Thal). Give Hb card. |
| NB:
Alpha plus (-a /-a) and alpha zero (-- / aa) thalassaemia trait cannot
be confirmed using Hb electrophoresis and FBC. Exact number of chains
deleted, or any other type of alpha chain mutation, can only be
confirmed using DNA analysis techniques. Therefore, routine Hb
electrophoresis and FBC will state "probable alpha thalassaemia"
or "alpha thalassaemia not excluded". |
|
