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Hematology in Primary
Care
Nathan Kikku Mubiru
Medical Laboratory Scientist(MLSO)
Referral Hit Parade
Raised Hb
Leucocytosis- neutrophilia/lymphocytosis
Thrombocytosis/thrombocytopenia
Paraproteins
macrocytosis
Low B12
Anaemia in the elderly
Microcytosis/ iron deficiency/alpha thal
Common haematological issues in
primary care
Lecture Workshop
â–șInterpreting the
blood count
â–șCommon referral
issues
◩ White cell problems
◩ Platelet problems
◩ Paraproteins
â–șRed cell issues
◩ Erythrocytosis
◩ Haematinics inc low
B12
â–șHaemoglobinpathy
inc alpha thal
â–șAnaemia in the
elderly
â–șAny cases brought for
discussion
Full blood count
Normal range
Adult male
Range
Hb 131-166
Hct 0.38-0.48
RBC count 3.6-4.8
MCV 80-98
MCH 27-34.2
WBC x109/l 3.5-9.5
Neutrophils 1.7-6.5
Lymphocytes 1.0-3.0
Platelets 140-370
Adult female
Range
Hb 110-147
Hct 0.32-0.42
WBC 3.5-9.5
Neutrophils 1.7-6.5
Lymphocytes 1.0-3.0
Platelets 140-370
What is the definition of normal?
White Blood Count
Lymphocytosis
History
Male age 58 years
Hypertension, Type II
DM
Smokes 10 cigs
Drugs
Simvastatin, Amlodopine
Exam
BMI 38
Bp 140/85
FBC September
2011
October
2011
November
2011
Hb 139 141 140
WBC
Lymphocytes
Neutrophils
6.7
3.9
2.8
6.9
4.1
2.8
6.9
4.2
2.5
Platelets 249 310 270
Lymphocytosis
â–șDoes the patient have haematological
cancer?
â–șShould I refer to haematology?
â–șShould I continue to monitor the
lymphocyte count?
â–șAre there any other tests I should do?
Lymphocytosis
â–șPrimary
◩ Lymphoid malignancies
â–șChronic Lymphocytic
Leukaemia
â–șLymphoma
â–șMonclonal B
Lymphocytosis
â–șReactive
◩ Viral (EBV, CMV, HSV, VZV)
◩ Stress Lymphocytosis
â–șDrug induced
â–șSeptic shock
â–șMyocardial infarct
â–șTrauma
â–șOther co-morbidities
â–șChronic
◩ Cigarette smoking
◩ Autoimmune disorder
◩ Chronic inflammation
◩ Sarcoid
◩ Raised BMI/metabolic
syndrome
Malignant Lymphocytosis ?
Lymphocyte count
more than 10x109/L
Lymphocyte count
less than 10x109/L
Refer to haematologist
anaemia or thrombocytopenia
recurrent infection?
adenopathy, spleen, liver?
Abnormal blood film?
Yes
No
Repeat FBC, review 1yrly
FBC
The Neutrophil Count
White Blood Count
Neutrophil Leucocytosis
History
Male age 68 years
Osteoarthritis,
CABG 2001
Non smoker
(stopped 2001)
Type 2 DM
Drugs
Simvastatin,
Aspirin, Gliclazide
Exam
Unremarkable
FBC July 2009 December
2010
May 2011
Hb 163 163 165
WBC
Lymphocytes
Neutrophils
15.7
2.4
13.0
17.0
2.0
13.5
14.0
2.1
11.9
Platelets 430 420 400
Neutrophil leucocytosis
â–ș Acute neutrophilia
◩ Reactive
â–șInfection/Inflammation
â–șneoplasia
â–șBleeding
â–șPain
â–șSmoking
â–șDrugs (glucocorticoids)
â–ș Chronic neutrophilia
◩ Reactive
◩ Drugs
◩ BMI/metabolic syn
◩ Haematologic
◩ Eg CML 1/100000
(Neutrophil) Leucocytosis
Important points
â–șUrgent referral
â–ș>50
â–șBlood film features of
CML or CMML (film
comment)
â–șConsider if
â–șChronic
neutrophilia>20
â–șChronic monocytosis
>1
â–șChronic eosinophila>2
History & Exam
infection, inflammation,
autoimmune, neoplasia
rash, arthritis, weight loss
CRP,
U&E,
LFT,
TFT
Ca
Auto Ab
Micro
culture
FBC,
ESR
CXR
Urine
Reactive screen
negative
Haematology referral
Neutropenia
â–șCaucasian female
aged 36yrs, no
significant medical
history, no regular
medication
â–șFH rheumatoid
arthritis
â–șHb 126 g/l
â–șWCC 3.1
â–șNeutrophils 0.4
â–șPlatelets 180
Neutropenia
(Neutrophils<1.7)
What do I need to
know?
â–șIs the patient
unwell? (Viral assoc
transient)
â–șAny previous
counts?
â–șAny other
cytopenia?
â–șIs the patient on
chemotherapy?
â–șOther drugs
â–șHow severe is it?
◩ Mild (1.0-1.7),
functionally normal
◩ Moderate (0.5-1.0)
◩ Severe (<0.5)-RISK
OF INFECTION
Neutropenia
What are the common causes?
â–șInfection
â–șDrugs (chemotherapy!)
â–șAutoimmune
â–șHereditary
◩ Racial (African origin 1.0-1.3)
Neutropenia <1.0
Patient on chemotherapy
Discuss with
haematologist and
refer
Unwell ?
Moderate or Severe
<0.5
No
No
B12, Folate,
LFT, GGT,
autoAb
Haematology
advice/referral
Neutropenia pathway
Yes
Consider repeat
particularly if
recent infection
Thrombocytosis
â–șMale 65yrs, mild hypertension on ramipril.
â–șHb 160, Hct 0.50, WCC 11.0 plts 450
â–șRefer or not?
Thrombocytosis
â–șMaybe reactive to
inflammation,
infection other
malignancy, iron
deficiency or
bleeding
â–șIn MPD very high
counts >1500 assoc
with vascular
events and bleeding
â–șUrgent referral
◩ >1000
◩ 600-1000 if assoc
with CVA, TIA, VTE
â–șConsider if
◩ >600 consistently
◩ >450 with vascular
event
◩ High wcc or Hb
Thrombocytopenia
â–ș>100 functionally
normal
â–ș<20 bleeding risk
rises but most
symptom free
â–șCauses
â–șImmune
â–șDrugs eg quinine
â–șBone marrow failure
syndromes eg MDS
â–șALCOHOL
â–șLiver disease
â–șPregnancy
Thrombocytopenia
â–șRefer
â–ș<50
â–ș50-100 if other
cytopenia or planned
surgery/dental work
â–șInvestigations
â–șBlood film- platelet
clumping
â–șRepeat sample
â–șRenal & liver
function
â–șClotting screen
â–șAutoantibodies
?Myeloma
History
68yr female,
Back pain 4 months
ESR 70
X Ray normal
 Hb 110
 WCC & plts normal
 U&E normal
 Total Protein 66 (60-74)
 IgG *
 IgA 0.7 (0.8-4.0)
 IgM 0.5 (0.5-2.0)
 MIg 7.0
 IgG Kappa monoclone
Should I refer to haematology?
Reminder

.Monoclonal or polyclonal?
Paraproteins
â–șRefer if
◩ IgG>15g, IgA>10g
◩ IgD or E
◩ Lower levels if assoc
with CRAB
â–șIgM usually assoc
with lymphoma
◩ Any other features?
◩ Paraprotein>10g
◩ ?Hyperviscosity
â–șC- Hypercalacemia
â–șR- unexplained
renal failure
â–șA-
anaemia/cytopenia
â–șB-bone
pain/fracture
Paraproteinaemia
 Most will be MGUS
 Present 3% over 70 and 5% over 80
 1% risk of progression to MM per annum
 A few secondary to auto-immune disease
& rarely other malignancies
 If criteria for referral not met then
monitor on a 6-12 monthly basis.
Common Red cell Problems
â–șMacrocytosis
â–șErythrocytosis
â–șHaematinic
assessment
â–șAnaemia in the
elderly
â–șHaemoglobinopathi
es including alpha
thal carriage
Macrocytosis
â–șApprox 8% population
â–șCommonest causes alcohol &
hypothyroidism
◩ B12/ folate deficiency
◩ Drugs (including those used for HIV)
◩ Reticulocytosis
◩ Paraprotein
◩ Myelodysplasia (elderly population & associated
with cytopenias)
Macrocytosis
Raised MCV >100
Are there cytopenias?
Check B12,
Folate,, LFT, GGT,
TFT, Igs,
Refer to Haematology
Yes
No
Isolated
macrocytosis
Monitor if
screening
normal
Erythrocytosis??
Erythrocytosis
â–șApparent
◩ Dehydration
◩ Diuretics
◩ Alcohol
◩ Raised BMI
â–șTrue Physiological
◩ Hypoxia eg COPD,
sleep apnoea
◩ High altitude
◩ Smoking
â–șTrue none
physiological
◩ Primary
polycythaemia
◩ Certain rare tumours
◩ Anabolic steroid
usage
URGENT REFERRAL
‱ Hct >60 males or
0.56 females
Erythrocytosis
Male
Hct >0.52
for at least 2 months
Female
Hct >0.48
for at least 2 months
Refer to Haematology
Incidence of polycythaemia rubra vera ~5/100 000
Incidence of apparent polycythaemia~ HIGH!
Haematinics
â–șThere is no entirely reliable blood test for
iron status
â–șThere is no entirely reliable blood test for
folate
â–șThere is no entirely reliable blood test for
B12
â–șFerritin is the test of choice
â–șInaccurate in the presence of inflammation
â–șA trial of iron remains a valid approach
â–șALCOHOL/FATTY LIVER & FERRITIN
â–șSerum folate is a good reflection of what
you have just eaten
â–șI’m not sure what B12 is a good reflection
of!
â–șInterpret borderline values with caution
â–șSchilling test no longer available
Reduced serum B12
â–șB12< 100 True
deficiency highly
likely parenteral
replacement
â–șB12 100-145
replace especially if
raised MCV,
cytopenia,
neuropathy
â–șB12>140 deficiency
unlikely
â–șB12 is an unreliable
test
â–șAlways reduced in
pregnancy
â–șUncomplicated
B12/folate
deficiency does not
require OP referral.
Anaemia in the elderly
â–șFrequency of
anaemia increases
with age
â–șIncidence 10-40%
â–șMany have
diagnosable/treatab
le cause
â–ș25% no identified
cause
â–șInvestigations
â–șFBC & film
â–șReticulocytosis
â–șRenal/ liver function
â–șImmunoglobulins
â–șHaematinics
â–șCoeliac screen
â–șDietary history
â–șGI investigations
â–șBone marrow
Anaemia in the elderly
CAUSE OF ANEMIA PERCENTAGE OF CASES
Anemia of chronic disease 30 to 45
Iron deficiency 15 to 30
Posthemorrhagic 5 to 10
Vitamin B12 and folate
deficiency
5 to 10
Chronic leukemia or
lymphoma
5
Myelodysplastic syndrome 5
No identifiable cause 15 to 25
The lost 25%?
â–șMULTIFACTORIAL
â–șDecline in erythropoetin
â–șDecline in androgens
â–șIncreased inflammatory cytokines even in
absence of a recognised disease
â–șAge associated decline in stem cell
function
â–șEarly MDS without other cytopenias or BM
changes
Indications for haematology
referral
Pancytopenia
Monoclonal gammopathy
Suspicion of myelodysplastic syndrome
Blood smear showing immature white cells
or nucleated red cells
Indeterminate status of iron stores
Unexplained progressive or unresponsive
anemia
What are
haemoglobinopathies?
â–șCommonest single gene disorders
worldwide
â–șAutosomal recessive
â–șDisease states homozygous or combined
heterozygotes
â–șDefects of quality or quantity of
haemoglobin
â–șQuality Variant Hbs eg sickle
â–șQuantity Under production eg thals
National Screening Plan
â–șNHS Plan commits
to “a new national
linked antenatal &
neonatal screening
programme for
haemoglobinopathy &
sickle cell disease by
2004”
â–șUniversal neonatal
â–șAntenatal ?selective
?universal
The haemoglobinopathy screen
â–șHaemoglobin
â–șMCV, MCH
â–șHb A2
â–șHPLC
â–șZPP/ferritin
â–șSickle solubility
test,
electrophoresis,
molecular analysis
Case study
â–ș32 year old female of Pakistani origin
attends c/o fatigue
â–șHb 11.9, MCV 71, MCH 23
â–șFerritin 109
â–șHb A2 normal, no evidence of b thal
b thalassaemia
b/b No Normal
b0
/b Thal trait Low MCV/MCH
b+
/b Thal trait Mild anaemia
b0
/b0 Thal major Transfusion
dependant
b0
/b+ Thal intermedia Anaemia,
splenomegally
b0
/HbE Thal major
a thalassaemia
aa/aa Normal
-a/aa Heterozygous a+
Low MCV/ MCH
-a/-a Homozygous a+
Low MCV/MCH
--/aa Heterozygous a0
Low MCV/MCH
--/-a Haemoglobin H
disease
Thal Intermedia
--/-- Hb Barts Hydrops Stillbirth
a thalassaemia heterozygotes
a0 a+
â–șCypriot 2%
â–șIndia rare
â–șAfrican rare
â–șHong Kong 5%
â–șChina 3-9%
â–șPhillipines 10%
â–șUK Africans 25%
â–șIndia 5-58%
â–șPNG 20-
80%
â–șThailand 3-17%
â–șMaori 5-10%
Summary points
â–șOther than for individuals of E. Med or SE
Asian origin a thal trait is insignificant
â–șMicrocytosis is commonly due to thal trait
â–șA national antenatal/neonatal screening
programme is now in place

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Haem

  • 1. Hematology in Primary Care Nathan Kikku Mubiru Medical Laboratory Scientist(MLSO)
  • 2. Referral Hit Parade Raised Hb Leucocytosis- neutrophilia/lymphocytosis Thrombocytosis/thrombocytopenia Paraproteins macrocytosis Low B12 Anaemia in the elderly Microcytosis/ iron deficiency/alpha thal
  • 3. Common haematological issues in primary care Lecture Workshop â–șInterpreting the blood count â–șCommon referral issues ◩ White cell problems ◩ Platelet problems ◩ Paraproteins â–șRed cell issues ◩ Erythrocytosis ◩ Haematinics inc low B12 â–șHaemoglobinpathy inc alpha thal â–șAnaemia in the elderly â–șAny cases brought for discussion
  • 4. Full blood count Normal range Adult male Range Hb 131-166 Hct 0.38-0.48 RBC count 3.6-4.8 MCV 80-98 MCH 27-34.2 WBC x109/l 3.5-9.5 Neutrophils 1.7-6.5 Lymphocytes 1.0-3.0 Platelets 140-370 Adult female Range Hb 110-147 Hct 0.32-0.42 WBC 3.5-9.5 Neutrophils 1.7-6.5 Lymphocytes 1.0-3.0 Platelets 140-370
  • 5. What is the definition of normal?
  • 6. White Blood Count Lymphocytosis History Male age 58 years Hypertension, Type II DM Smokes 10 cigs Drugs Simvastatin, Amlodopine Exam BMI 38 Bp 140/85 FBC September 2011 October 2011 November 2011 Hb 139 141 140 WBC Lymphocytes Neutrophils 6.7 3.9 2.8 6.9 4.1 2.8 6.9 4.2 2.5 Platelets 249 310 270
  • 7. Lymphocytosis â–șDoes the patient have haematological cancer? â–șShould I refer to haematology? â–șShould I continue to monitor the lymphocyte count? â–șAre there any other tests I should do?
  • 8. Lymphocytosis â–șPrimary ◩ Lymphoid malignancies â–șChronic Lymphocytic Leukaemia â–șLymphoma â–șMonclonal B Lymphocytosis â–șReactive ◩ Viral (EBV, CMV, HSV, VZV) ◩ Stress Lymphocytosis â–șDrug induced â–șSeptic shock â–șMyocardial infarct â–șTrauma â–șOther co-morbidities â–șChronic ◩ Cigarette smoking ◩ Autoimmune disorder ◩ Chronic inflammation ◩ Sarcoid ◩ Raised BMI/metabolic syndrome
  • 9. Malignant Lymphocytosis ? Lymphocyte count more than 10x109/L Lymphocyte count less than 10x109/L Refer to haematologist anaemia or thrombocytopenia recurrent infection? adenopathy, spleen, liver? Abnormal blood film? Yes No Repeat FBC, review 1yrly FBC
  • 11. White Blood Count Neutrophil Leucocytosis History Male age 68 years Osteoarthritis, CABG 2001 Non smoker (stopped 2001) Type 2 DM Drugs Simvastatin, Aspirin, Gliclazide Exam Unremarkable FBC July 2009 December 2010 May 2011 Hb 163 163 165 WBC Lymphocytes Neutrophils 15.7 2.4 13.0 17.0 2.0 13.5 14.0 2.1 11.9 Platelets 430 420 400
  • 12. Neutrophil leucocytosis â–ș Acute neutrophilia ◩ Reactive â–șInfection/Inflammation â–șneoplasia â–șBleeding â–șPain â–șSmoking â–șDrugs (glucocorticoids) â–ș Chronic neutrophilia ◩ Reactive ◩ Drugs ◩ BMI/metabolic syn ◩ Haematologic ◩ Eg CML 1/100000
  • 13. (Neutrophil) Leucocytosis Important points â–șUrgent referral â–ș>50 â–șBlood film features of CML or CMML (film comment) â–șConsider if â–șChronic neutrophilia>20 â–șChronic monocytosis >1 â–șChronic eosinophila>2 History & Exam infection, inflammation, autoimmune, neoplasia rash, arthritis, weight loss CRP, U&E, LFT, TFT Ca Auto Ab Micro culture FBC, ESR CXR Urine Reactive screen negative Haematology referral
  • 14. Neutropenia â–șCaucasian female aged 36yrs, no significant medical history, no regular medication â–șFH rheumatoid arthritis â–șHb 126 g/l â–șWCC 3.1 â–șNeutrophils 0.4 â–șPlatelets 180
  • 15. Neutropenia (Neutrophils<1.7) What do I need to know? â–șIs the patient unwell? (Viral assoc transient) â–șAny previous counts? â–șAny other cytopenia? â–șIs the patient on chemotherapy? â–șOther drugs â–șHow severe is it? ◩ Mild (1.0-1.7), functionally normal ◩ Moderate (0.5-1.0) ◩ Severe (<0.5)-RISK OF INFECTION
  • 16. Neutropenia What are the common causes? â–șInfection â–șDrugs (chemotherapy!) â–șAutoimmune â–șHereditary ◩ Racial (African origin 1.0-1.3)
  • 17. Neutropenia <1.0 Patient on chemotherapy Discuss with haematologist and refer Unwell ? Moderate or Severe <0.5 No No B12, Folate, LFT, GGT, autoAb Haematology advice/referral Neutropenia pathway Yes Consider repeat particularly if recent infection
  • 18. Thrombocytosis â–șMale 65yrs, mild hypertension on ramipril. â–șHb 160, Hct 0.50, WCC 11.0 plts 450 â–șRefer or not?
  • 19. Thrombocytosis â–șMaybe reactive to inflammation, infection other malignancy, iron deficiency or bleeding â–șIn MPD very high counts >1500 assoc with vascular events and bleeding â–șUrgent referral ◩ >1000 ◩ 600-1000 if assoc with CVA, TIA, VTE â–șConsider if ◩ >600 consistently ◩ >450 with vascular event ◩ High wcc or Hb
  • 20. Thrombocytopenia â–ș>100 functionally normal â–ș<20 bleeding risk rises but most symptom free â–șCauses â–șImmune â–șDrugs eg quinine â–șBone marrow failure syndromes eg MDS â–șALCOHOL â–șLiver disease â–șPregnancy
  • 21. Thrombocytopenia â–șRefer â–ș<50 â–ș50-100 if other cytopenia or planned surgery/dental work â–șInvestigations â–șBlood film- platelet clumping â–șRepeat sample â–șRenal & liver function â–șClotting screen â–șAutoantibodies
  • 22. ?Myeloma History 68yr female, Back pain 4 months ESR 70 X Ray normal  Hb 110  WCC & plts normal  U&E normal  Total Protein 66 (60-74)  IgG *  IgA 0.7 (0.8-4.0)  IgM 0.5 (0.5-2.0)  MIg 7.0  IgG Kappa monoclone Should I refer to haematology? Reminder

.Monoclonal or polyclonal?
  • 23. Paraproteins â–șRefer if ◩ IgG>15g, IgA>10g ◩ IgD or E ◩ Lower levels if assoc with CRAB â–șIgM usually assoc with lymphoma ◩ Any other features? ◩ Paraprotein>10g ◩ ?Hyperviscosity â–șC- Hypercalacemia â–șR- unexplained renal failure â–șA- anaemia/cytopenia â–șB-bone pain/fracture
  • 24. Paraproteinaemia  Most will be MGUS  Present 3% over 70 and 5% over 80  1% risk of progression to MM per annum  A few secondary to auto-immune disease & rarely other malignancies  If criteria for referral not met then monitor on a 6-12 monthly basis.
  • 25. Common Red cell Problems â–șMacrocytosis â–șErythrocytosis â–șHaematinic assessment â–șAnaemia in the elderly â–șHaemoglobinopathi es including alpha thal carriage
  • 26. Macrocytosis â–șApprox 8% population â–șCommonest causes alcohol & hypothyroidism ◩ B12/ folate deficiency ◩ Drugs (including those used for HIV) ◩ Reticulocytosis ◩ Paraprotein ◩ Myelodysplasia (elderly population & associated with cytopenias)
  • 27. Macrocytosis Raised MCV >100 Are there cytopenias? Check B12, Folate,, LFT, GGT, TFT, Igs, Refer to Haematology Yes No Isolated macrocytosis Monitor if screening normal
  • 29. Erythrocytosis â–șApparent ◩ Dehydration ◩ Diuretics ◩ Alcohol ◩ Raised BMI â–șTrue Physiological ◩ Hypoxia eg COPD, sleep apnoea ◩ High altitude ◩ Smoking â–șTrue none physiological ◩ Primary polycythaemia ◩ Certain rare tumours ◩ Anabolic steroid usage URGENT REFERRAL ‱ Hct >60 males or 0.56 females
  • 30. Erythrocytosis Male Hct >0.52 for at least 2 months Female Hct >0.48 for at least 2 months Refer to Haematology Incidence of polycythaemia rubra vera ~5/100 000 Incidence of apparent polycythaemia~ HIGH!
  • 31. Haematinics â–șThere is no entirely reliable blood test for iron status â–șThere is no entirely reliable blood test for folate â–șThere is no entirely reliable blood test for B12
  • 32. â–șFerritin is the test of choice â–șInaccurate in the presence of inflammation â–șA trial of iron remains a valid approach â–șALCOHOL/FATTY LIVER & FERRITIN â–șSerum folate is a good reflection of what you have just eaten â–șI’m not sure what B12 is a good reflection of! â–șInterpret borderline values with caution â–șSchilling test no longer available
  • 33. Reduced serum B12 â–șB12< 100 True deficiency highly likely parenteral replacement â–șB12 100-145 replace especially if raised MCV, cytopenia, neuropathy â–șB12>140 deficiency unlikely â–șB12 is an unreliable test â–șAlways reduced in pregnancy â–șUncomplicated B12/folate deficiency does not require OP referral.
  • 34. Anaemia in the elderly â–șFrequency of anaemia increases with age â–șIncidence 10-40% â–șMany have diagnosable/treatab le cause â–ș25% no identified cause â–șInvestigations â–șFBC & film â–șReticulocytosis â–șRenal/ liver function â–șImmunoglobulins â–șHaematinics â–șCoeliac screen â–șDietary history â–șGI investigations â–șBone marrow
  • 35. Anaemia in the elderly CAUSE OF ANEMIA PERCENTAGE OF CASES Anemia of chronic disease 30 to 45 Iron deficiency 15 to 30 Posthemorrhagic 5 to 10 Vitamin B12 and folate deficiency 5 to 10 Chronic leukemia or lymphoma 5 Myelodysplastic syndrome 5 No identifiable cause 15 to 25
  • 36. The lost 25%? â–șMULTIFACTORIAL â–șDecline in erythropoetin â–șDecline in androgens â–șIncreased inflammatory cytokines even in absence of a recognised disease â–șAge associated decline in stem cell function â–șEarly MDS without other cytopenias or BM changes
  • 37. Indications for haematology referral Pancytopenia Monoclonal gammopathy Suspicion of myelodysplastic syndrome Blood smear showing immature white cells or nucleated red cells Indeterminate status of iron stores Unexplained progressive or unresponsive anemia
  • 38. What are haemoglobinopathies? â–șCommonest single gene disorders worldwide â–șAutosomal recessive â–șDisease states homozygous or combined heterozygotes â–șDefects of quality or quantity of haemoglobin â–șQuality Variant Hbs eg sickle â–șQuantity Under production eg thals
  • 39. National Screening Plan â–șNHS Plan commits to “a new national linked antenatal & neonatal screening programme for haemoglobinopathy & sickle cell disease by 2004” â–șUniversal neonatal â–șAntenatal ?selective ?universal
  • 40. The haemoglobinopathy screen â–șHaemoglobin â–șMCV, MCH â–șHb A2 â–șHPLC â–șZPP/ferritin â–șSickle solubility test, electrophoresis, molecular analysis
  • 41. Case study â–ș32 year old female of Pakistani origin attends c/o fatigue â–șHb 11.9, MCV 71, MCH 23 â–șFerritin 109 â–șHb A2 normal, no evidence of b thal
  • 42.
  • 43. b thalassaemia b/b No Normal b0 /b Thal trait Low MCV/MCH b+ /b Thal trait Mild anaemia b0 /b0 Thal major Transfusion dependant b0 /b+ Thal intermedia Anaemia, splenomegally b0 /HbE Thal major
  • 44. a thalassaemia aa/aa Normal -a/aa Heterozygous a+ Low MCV/ MCH -a/-a Homozygous a+ Low MCV/MCH --/aa Heterozygous a0 Low MCV/MCH --/-a Haemoglobin H disease Thal Intermedia --/-- Hb Barts Hydrops Stillbirth
  • 45.
  • 46. a thalassaemia heterozygotes a0 a+ â–șCypriot 2% â–șIndia rare â–șAfrican rare â–șHong Kong 5% â–șChina 3-9% â–șPhillipines 10% â–șUK Africans 25% â–șIndia 5-58% â–șPNG 20- 80% â–șThailand 3-17% â–șMaori 5-10%
  • 47. Summary points â–șOther than for individuals of E. Med or SE Asian origin a thal trait is insignificant â–șMicrocytosis is commonly due to thal trait â–șA national antenatal/neonatal screening programme is now in place