Thalassemia in pregnancy

(RCOG Green-top 2014 guidelines)

Iqra Yasin

Resident, Obs & Gyne Unit I

SIMS/Services Hospital, Lahore

Outline

– Etymology

– Definition

– Epidemiology

– Genetics

– α thalassemia

– β thalassemia

– RCOG Green top guidelines # 66

Etymology

Definition

– Quantitative disorder of globin chain production that either affect α or β globin chain

Epidemiology

– Common in Mediterranean countries

– Incidence

– UK 1:10,000

– Cyprus 1: 7

– Pakistan (no definite data available: estimated 5000 – 9000 babies born with thalassemia per year with carrier rate 5 – 7 % in general population)

Genetics

– Autosomal recessive pattern of inheritance

– α chain

– 2 pairs of genes (Total 4; 1 pair from each parent)

– Chromosome 16

– β chain

– 2 genes (1 from each parent)

– Chromosome 11

Autosomal recessive pattern of inheritance

α thalassemia

– Caused by when 1-4 α gene deletion

α thalassemia

– α thalassemia trait

– No/mild anemia in pregnancy

– No abnormal Hb found

– Not detected by Hb electrophoresis

– HbH disease

– Chronic hemolytic anemia

– Moderate anemia (Hypochromia, marked microcytosis)

– 5-30 % HbH Hb in peripheral blood (detected by Hb electrophoresis)

– HbH inclusion bodies in red cells (golf ball cells –supravital staining)

– Can transmit as α thalassemia trait in children

α thalassemia

– α thalassemia major

– No α chain

– No HbA, HbA2 and HbF

– Accumulation of Fetal ϒ4 ( Hb barts*)

– Severe anemia failure of O2 delivery to tissue Cardiac failure & abnormal organogenesis Hydrops fetalis + Polyhydroamnios + Placentomegaly

– Serious Obstetric complications (Pre-eclampsia, difficult delivery due to large fetus and placenta)

*This variant of hemoglobin is so called as it was discovered at St. Bartholomew's Hospital in London, also called St. Barts.

α thalassemia - management

β thalassemia

– Caused by defective β gene.

– Severity of disease depend upon nature of mutation and presence of mutation in 1 or both alleles

– 2 types of mutation

– Β+ reduced function

– Βo absent function

β thalassemia major = Mediterranean anemia or Cooley anemia

Thomas Benton Cooley(1871 – 1945)American pediatrician and hematologist

β thalassemia

β thalassemia

β thalassemia

Hair-on-end / crew-cut appearance

β thalassemia

β thalassemiaPERIPHERAL SMEAR

Target cells red cells with central staining with precipitated haemoglobin

Basophilic Stripping(Punctate Basophilia)

accumulation of ribosomes in periphery of red cell

Howell Jolly Bodies basophilic nuclear remnants (clusters of DNA) in circulating erythrocytes.

William Henry Howell(1860- 1945)American Physiologists

Justin Marie Jolly(1870 – 1953)French hematologist and histologist

β thalassemia - Mnemonic

β thalassemia (Hb electrophoresis)

β thalassemia- summary

β thalassemia - complications

β thalassemia - management

β thalassemia - management

Thalassemia vs Iron deficiency anemia

Management – outside pregnancy– Blood transfusion

– Iron chelating therapy

– Folic acid supplements

– Bone marrow stem cell transplant

– Possible future options

– Gene therapy

– Trigger to stimulate HbF production (hydrocyurea)

RCOG 2014 Green-top guidelines– Preconception care

– Antenatal care

– Intrapartum care

– Postpartum care

– Booking appointments

– Schedule of antenatal appointments

Preconception care

Preconception care

Preconception care

Preconception care

Preconception care

Preconception care

Preconception care

Preconception care

Preconception care

Preconception care

Preconception care

Preconception care

Preconception care

Antenatal care

Antenatal care

Antenatal care

Antenatal care

Antenatal care

Antenatal care

Antenatal care

Antenatal care

Intrapartum care

Postpartum care

Booking appointment

Schedule of antenatal appointments

Schedule of antenatal appointments

Schedule of antenatal appointments