PAEDIATRIC HAEMATOLOGY
Fetal Adult
haemoglobin (HbF) haemoglobin (HbA
Composition 2 alpha + 2 gamma 2 alpha + 2 beta
units units
O2 affinity Higher Lower
Highest Embryo to 32 weeks > 32-36 wks GA
concentration
Why is fetal Hb protective against sickle cell disease?
Ø Sickle cell disease – abnormal genetic coding of beta subunit
Ø Fetal Hb has NO beta subunits, hence has NO sickling or red blood cells
Ø Administer hydroxycarbamide to increase HbF production in sickle cell patients to prevent complications such as acute chest syndrome and
sickle cell crisis
PAEDIATRIC ANAEMIA: Refer to adult haematology section:
Anaemia in infancy Anaemia in older children
Physiological anaemia: Microcytic causes: Normocytic anaemia (3 Macrocytic anaemia
Ø Main cause Ø Thalessemia A’s, 2 H’s) Ø B12 or folate def.
Ø Normal Hb drop in 6-9 wks of age Ø Anaemia of Ø Acute blood loss Ø Pernicious
Ø Due to high Hb at birth causing negative feedback – EPO production is chronic disaes Ø Anaemia of chronic anaemia
suppressed leading to reduced Hb production by bone marrow Ø Iron def. anaemia disease Ø Alcohol
Ø Lead poisoning Ø Aplastic anaemia Ø Reticulocytosis
Other causes Ø Sideroblastic Ø Haemolytic anaemia Ø Drugs (e.g
• Anaemia of prematurity anaemia Ø Hypothyroidism azathioprine)
o Reduced in-utero time to receive Fe from mother Ø Hypothyroidism
o RBC production cannot maintain rapid growth in first few weeks Ø Liver disease
o Reduced EPO levels
o Blood tests remove circulating volume
• Blood loss
• Haemolysis Ø
o Heamolytic disease of newborn (ABO incomp., Rh disease)
o Hereditary spherocytosis
o G6PD def
• Twin-twin transfusion
Thalessemia Hereditary spherocytosis G6PD deficiency
Ø Genetic defect in protein chains of Hb Spherically shaped RBC – makes them Defect in G6PD enzyme
Ø Autosomal recessive fragile and easily destroyed Ø X-linked recessive
PP
Ø Autosomal dominant Ø No cell protection from ROS
causing haemolysis
Ø Consanguineous parents Ø Northern Europeans Ø Males
RF Ø Triggers = infections, meds,
fava beans, naphthalene
• XS damaged RBC ® Splenomegaly • Pathological jaundice • Pathological jaundice
• Bone marrow expansion to compensate ® pronounced forehead and malar • Anaemia • Anaemia
Sx eminences • Gallstones • Gallstones
• Anaemia Sx – pallor, fatigue, FTT • Splenomegaly Ø Splenomegaly
Ø Gallstones ® Jaundice • Haemolytic crisis (post-infection) Ø
Comp.
Ø Fe overload (mimics haemochromatosis Sx) • Aplastic crisis
Ø FBC/MCV – microcytic anaemia Clinical Dx – FHx and clinical features Ø FBC
Ø HB electrophoresis Ø FBC + blood film Ø blood film (Heinz bodies –
Ix Ø MCHC – raised denatured Hb “inclusions”)
Ø Serum ferretin Ø G6PD assay
Ø DNA testing Ø Haemolytic screen – raised
reticulocytes
Issue Mx Ø Folate supplementation Avoid triggers
• Monitor FBC & comp. Ø Splenectomy Ø fava beans
Ø moth balls
a-thalassemia • Blood transfusions Ø certain meds)
(Chr 16) Manage complications
• Splenectomy o primaquine (antimalarial)
Ø Cholecystectomy for gallstones
• BMT (Curative intent) o ABx (cipro, trimeth, nitro)
Ø Transfusions for aplastic or
beta-thalassemia minor (Chr 11) Ø Microcytic anaemia haemolytic crisis o Sulfur phased drugs
One abnormal + one normal gene Ø NO active Rx (sulfonylureas,
sulfasalazine)
Mx beta-thalassemia intermedia (Chr 11) Ø Sig. Microcytic anaemia WHAT IS APLASTIC CRISIS?
One defective + one delete gene OR Ø Blood transfusion Ø Normally bone marrow produces
both defective Ø +/- Fe chelation RBC in response to heamolysis
(seen through raised reticulocytes)
Ø Severe anaemia + FTT Ø Aplastic crisis – NO reticulocytes in
Ø Splenomegaly response to haemolysis –
beta-thalassemia major (Chr 11)
Ø Bone deformities worsening heamolysis and jaundice
NO functional genes
Ø Regular blood transfusions,
Fe chelation, splenectomy
Ø BMT (curative intent)
Fetal Adult
haemoglobin (HbF) haemoglobin (HbA
Composition 2 alpha + 2 gamma 2 alpha + 2 beta
units units
O2 affinity Higher Lower
Highest Embryo to 32 weeks > 32-36 wks GA
concentration
Why is fetal Hb protective against sickle cell disease?
Ø Sickle cell disease – abnormal genetic coding of beta subunit
Ø Fetal Hb has NO beta subunits, hence has NO sickling or red blood cells
Ø Administer hydroxycarbamide to increase HbF production in sickle cell patients to prevent complications such as acute chest syndrome and
sickle cell crisis
PAEDIATRIC ANAEMIA: Refer to adult haematology section:
Anaemia in infancy Anaemia in older children
Physiological anaemia: Microcytic causes: Normocytic anaemia (3 Macrocytic anaemia
Ø Main cause Ø Thalessemia A’s, 2 H’s) Ø B12 or folate def.
Ø Normal Hb drop in 6-9 wks of age Ø Anaemia of Ø Acute blood loss Ø Pernicious
Ø Due to high Hb at birth causing negative feedback – EPO production is chronic disaes Ø Anaemia of chronic anaemia
suppressed leading to reduced Hb production by bone marrow Ø Iron def. anaemia disease Ø Alcohol
Ø Lead poisoning Ø Aplastic anaemia Ø Reticulocytosis
Other causes Ø Sideroblastic Ø Haemolytic anaemia Ø Drugs (e.g
• Anaemia of prematurity anaemia Ø Hypothyroidism azathioprine)
o Reduced in-utero time to receive Fe from mother Ø Hypothyroidism
o RBC production cannot maintain rapid growth in first few weeks Ø Liver disease
o Reduced EPO levels
o Blood tests remove circulating volume
• Blood loss
• Haemolysis Ø
o Heamolytic disease of newborn (ABO incomp., Rh disease)
o Hereditary spherocytosis
o G6PD def
• Twin-twin transfusion
Thalessemia Hereditary spherocytosis G6PD deficiency
Ø Genetic defect in protein chains of Hb Spherically shaped RBC – makes them Defect in G6PD enzyme
Ø Autosomal recessive fragile and easily destroyed Ø X-linked recessive
PP
Ø Autosomal dominant Ø No cell protection from ROS
causing haemolysis
Ø Consanguineous parents Ø Northern Europeans Ø Males
RF Ø Triggers = infections, meds,
fava beans, naphthalene
• XS damaged RBC ® Splenomegaly • Pathological jaundice • Pathological jaundice
• Bone marrow expansion to compensate ® pronounced forehead and malar • Anaemia • Anaemia
Sx eminences • Gallstones • Gallstones
• Anaemia Sx – pallor, fatigue, FTT • Splenomegaly Ø Splenomegaly
Ø Gallstones ® Jaundice • Haemolytic crisis (post-infection) Ø
Comp.
Ø Fe overload (mimics haemochromatosis Sx) • Aplastic crisis
Ø FBC/MCV – microcytic anaemia Clinical Dx – FHx and clinical features Ø FBC
Ø HB electrophoresis Ø FBC + blood film Ø blood film (Heinz bodies –
Ix Ø MCHC – raised denatured Hb “inclusions”)
Ø Serum ferretin Ø G6PD assay
Ø DNA testing Ø Haemolytic screen – raised
reticulocytes
Issue Mx Ø Folate supplementation Avoid triggers
• Monitor FBC & comp. Ø Splenectomy Ø fava beans
Ø moth balls
a-thalassemia • Blood transfusions Ø certain meds)
(Chr 16) Manage complications
• Splenectomy o primaquine (antimalarial)
Ø Cholecystectomy for gallstones
• BMT (Curative intent) o ABx (cipro, trimeth, nitro)
Ø Transfusions for aplastic or
beta-thalassemia minor (Chr 11) Ø Microcytic anaemia haemolytic crisis o Sulfur phased drugs
One abnormal + one normal gene Ø NO active Rx (sulfonylureas,
sulfasalazine)
Mx beta-thalassemia intermedia (Chr 11) Ø Sig. Microcytic anaemia WHAT IS APLASTIC CRISIS?
One defective + one delete gene OR Ø Blood transfusion Ø Normally bone marrow produces
both defective Ø +/- Fe chelation RBC in response to heamolysis
(seen through raised reticulocytes)
Ø Severe anaemia + FTT Ø Aplastic crisis – NO reticulocytes in
Ø Splenomegaly response to haemolysis –
beta-thalassemia major (Chr 11)
Ø Bone deformities worsening heamolysis and jaundice
NO functional genes
Ø Regular blood transfusions,
Fe chelation, splenectomy
Ø BMT (curative intent)
