1. Hemoglobinopathies are inherited disorders affecting the globin chains that make up hemoglobin, leading to structural abnormalities. The most common types are sickle cell disease and thalassemia. 2. Sickle cell disease results from a point mutation causing hemoglobin S, which can distort red blood cells into a sickle shape and block blood flow. Thalassemia involves reduced or absent globin chain synthesis. 3. During pregnancy, hemoglobinopathies can cause complications like miscarriage, prematurity, and maternal death from issues like pulmonary embolism. Care involves monitoring, transfusions, antibiotics, and pain management to prevent crises.

1. Haemoglobinopathies in
pregnancy
DR.DEBENDRA KUMAR NAIK
ASST. PROFESSOR
BBMCH, BALANGIR

2. β
β
α
α
heme
Hemoglobin structure

3.  Haemoglobin--- conjugated
protein ( globin fraction + 4
heme moieties )
 4 polypeptide chains within
globin fraction–
• alpha
• beta,
• gamma,
• delta

4. α
α
α
α α
α
β γ δ
β δ
γ
HbA HbF HbA2
96.98 % 0.5-0.8 % 1.5-3.7 %
Hemoglobins in normal adults

5. TYPES
Sickle cell
disease thalassemia
Definition–
Haemoglobinopathies are inherited specific biochemical
disorders(quantity or quality ) within the polypeptide chains of globin
fractions.
Structural
abnormality
Defect in synthesis and
production of globin (HbA
= Normal)

7. Sickle cell haemoglobinopathies
 Hereditary disorders
 Point mutation in the beta - globin gene on chromosome 11
 Substitution of valine for glutamic acid at position 6 of the beta chain of
normal haemoglobin
 Gene mutation
• Sickle cell anemia
• HbF (Small quantity) + No HbA
Homozygous
(Hb-SS)
• Sickle cell trait
• HbS(35-40%)+HbA(55-60%)
Heterozygous
(Hb-AS)

8. PATHOPHYSIOLOGY
Oxygenated state
 Red cell + HbS
 BEHAVES NORMALLY
Deoxygenated state
 Aggregates, polymerises and distort
the red cells to SICKLE
Rigid stucture
Block microcirculation
The cells have got shorter
lifespan and more fragile
Increased destruction lead to
hemolysis,anemia and jaundice

9. Sickling phenomena is precipited by
INFECTION ACIDOSIS DEHYDRATION
HYPOXIA COOLING

10. DIAGNOSIS :
 Refractory hypochromic anemia
 Identification by sickling test
 Persistent reticulocytosis
 High fasting serum iron level
 Identification of type of haemoglobinopathies by electrophoresis
Effects on pregnancy
1. Miscarriage
2. Prematurity
3. IUGR
4. Fetal loss
5. Increased incidence of --- preeclampsia
post partum haemorrhage
infection

11. Caused of maternal death
 Pulmonary infarction
 Acute chest syndrome
 Congestive heart failure
 Embolism

12. Effects on disease
 Chance of sickle cell crisis--- usually in third trimester
Two types
Haemolytic crisis
Due to rapidly developing anemia and
jaundice
Association-- leukocytosis
fever
Painful / vaso-occlusive crisis
Due to vascular occlusion of various organ by
capillary thrombosis
• Organs commonly affected---
• bones(osteonecrosis
• kidney(renal medulla )
• Hepatosplenomegaly
• Lungs(infarction)
• Heart(failure)
• Neurologic (stroke and seizure)

13. management
 Preconceptional counselling – prenatal identification (CVS)of homozygous
state of the disorder
 During pregnancy-
a) careful antenatal supervision
b) Prophylactic folic acid(1mg) daily
c) Prophylactic booster or exchange blood transfusion
d) objective of transfusion—1. keep haematocrit value- >25%
2. HbA - >20%
3.concentration of HbS- < 50%
e) infection– penicillin prophylaxis given to all patients with SCD as they are at
increased risk of N.meningitis, S. pneumonia, H.influenza

14. f) HYDROXYUREA—used as disease modifying drug
 Increases HbF
 Improves red cell hydration
 Reduces polymerization of HbS
 Reduces thecrisis
 Teratogenic--- It should be stoped 3 months before conception
--

15. Labor and delivery :
vaginal delivery is preferred
 Continuous oxygen therapy by nasal cannula is done to maintain PaO2 > 94%
 Anoxia is to be avoided during anesthesia. EPIDURAL ANESTHESIA IS PREFERED.
 Adequate fluid infusion to avoid dehydration and acidosis
 Cesarean section for obstetrics indication only.
 Routine antibiotic used in puerperium to prevent infection
 Thromboprophylaxis (LMWH) - --during pregnancy and upto puerperium.
 Cord blood is sent for haemoglobinopathy screening

16. Contraception :
 Sterilization should be considered even with low parity --- because of the short lifespan of the
patient
 Contraception of choice --1. Barrier method
2. progesterone containing contraceptives – POP
-- Injectable– DMPA
-- LNG--IUS
 contraindicated –
1. OCP-- it may aggravate risk of thromboembolism
2. IUCD– fear of infection

17. THALASSEMIA SYNDROME
 Incidence during pregnancy– 1 in 300-500
 Basic defect is a reduced rate globin chain synthesis
 As a result , the red cells being formed with an inadequate haemoglobin
content
 There is deficient erythropoiesis ,haemolysis, and ultimately anemia

18.  The major syndromes are of two types—
the alpha and beta thalassemia depending on whether the alpha or beta
globin chain synthesisof the adult haemoglobin is depressed .
Alpha and beta thalassemia exist in both the homozygous (major) and
heterozygous (minor) states.

19. ALPHA THALASSEMIA
 Alpha thalassemia major is incompatible with life .
 Alpha peptide chain production is controlled by four genes, located on
chromosome 16 (two on each copy)
 Depending upon the degree of deficient alpha peptide chain synthesis, four
clinical types of syndrome
i. Mutation of one gene-- silent carrier
ii. Mutation in two of the four genes– alpha thalassemia minor, pregnancy well
tolerated
iii. Mutation in three of the four genes-- haemoglobin H disease
iv. Mutation in all four genes--- alpha thalassemia major
Prenatal diagnosis-- can be diagnosed by NIPT, CVS, or
amniocentesis

20. Treatment---
 Alpha thalassemia minor--- the reproductive performance usually normal
 require iron and folate supplementation
 If the haemoglobin is low , blood transfusion is indicated
 Parenteral iron therapy never given

21. Beta thalassemia
 Mutation in beta globin gene
 Beta chain production is decreased and excess of alpha chains precipitate
to cause red cell membrane damage.
Beta thalassemia major (Cooley anemia, Thomas B colley of US—
1. When mutation affect both genes
2. No beta chain production leads to red cell destruction
3. Erythropoisis is ineffective.
4. Such an infant needs repeated blood transfusion to survive.
5. There is Progressive hepatosplenomegaly , impaired growth
,anemia, congestive cardiac failure and intercurrent infection
6. Treatment--Iron chelation therapy with desferoxamine and blood
transfusion

22. Beta thalassemia minor
 When there is mutation of one gene , beta peptide chain
production is redced by half .
 Excess alpha chains combine with gamma chains producing
HbA2 (alpha2 + gamma 2) with delta chains producing HbF(
alpha 2+ delta 2).
 Sickle cell trait may coexist with thalassemia minor.

23. Haematological findings in thalassemia
 Low MCV and MCH but normal MCHC.
 Serum iron and total iron binding capacity----normal or
 Hb electrophoresis--- HbA2 --- (>3.5 % ) (alpha 2 + delta 2 )
HbF ---(alpha 2+ gamma2) – N/
 S. bilirubin ----- to 2-3 %
 Anaemia--- mild

24. Diagnosis ---> often late
---> when patient fails to respond
to oral or parenteral iron therapy to correct
anaemia.
Iron overload- > hepatic and cardiac
hemosiderosis

25. Treatment -
 In thalassemia major– oral and IV iron therapy --- contraindicated
 Women need careful monitoring for cardiac, liver,thyroid and parathyroid function(
as organs are affected due to iron overload)
LABOR AND DELIVERY
 Management are usual
 Patients with thalassemia major are often short stature with small pelvis
 Cesarean delivery is often needed .
 Majority of women tolerate pregnancy well with good feto- maternal outcome
 Oral iron therapy in thalassemia minor is given only when laboratory diagnosis of
iron deficiency is established.

26. Thank you