HAEMOLYTIC ANAEMIA

DEFINITION -

A disorder in which the red blood cells are destroyed Prematurely.

Cells are broken down at a faster rate than the bone marrow produce new cells

What is haemolysis?

The destruction or dissolution of red Blood cells which relaese HaemoglobinAlso known as ERYTHROCYTOLYSIS ,ERYTHROLYSIS

ExtravascularIntravascular

CLASSIFICATION

Inherited Aquired

1. Red cell membrane

defect

2. Haemoglobin

Abnormalities

3. Metabolic Defects

1. Immune

2. Non Immune

1. RED CELL MEMBRANE DEFECTS

Eg :- Hereditary Spherocytosis Hereditary Elliptocytosis

HEREDITARY SPHEROCYTOSIS

Inherited as Autosomal Dominant

Present in Approximately 1:5000

Defects in Red Cell Membrane

Most Characterized defect is in defficiency of- SPECTRIN

Most Common-ANQUIRUM

HEREDETARY SPHEROCYTOSIS

Spherical rather than disk shaped

Cells more Rigid and less deformable

Unable to pass through Splenic micro circulation

Cell LysisAnaemi

a

HEREDITARY ELLIPTOCYTOSIS

Aauatosmal Dominant

Red Cells are Elliptical

Due to alterations in

Structure or Quantity of

Cytoskeleton Proteins

Eg- , β Spectrin

HEREDITARY STOMAOCYTOSIS

Red cells in which the pale

central area appears

Due to Asymmetric

increased passing of Na+

and K+ Ions in RBC

(Passive leak is Increased)

Laeding to Haemolysis

Abnormalities Occur in

Globin Chain Production

Structure of the Globin Chain

THALASSAEMIA SICKLE CELL ANAEMIA

2. Haemoglobin Abnormalities

THALASSAEMIA

An inherited autosomal recessive haemolytic disease

•Imbalance occur in the Synthesis of Globin Chains

•Precipitation of Globin Chains in mature Red Cells

•Haemolysis

THALASSAEMIA

Thalassaemia β Thalassaemia

•Caused By gene Deletion

•Defects in synthesis of

Globin Chain

Thalassaemia Minor{Trait}

Thalassaemic Intermedia

Thalassaemia Major{Cooleys Anaemia}

• Caused By Point Mutation

THALASSAEMIA MINOR{TRAIT}

Heterozygous carrer state

Asymptomatic

Anaemia Mild or absent

Red Cells are Hypochromic and Microcytic

THALASSAEMIA MAJOR{COOLEYS ANAEMIA}

Severe Anaemia From 3-6 Months

Haepatosplenomegally and Bone expansion

Require Regular Transfusion

THALASSAEMIC INTERMEDIA

Symptomatic with Moderate Anaemia

Rarely required Transfusion

SICKLE CELL ANAEMIA

An autosomal Recessive Type of disease Due to Point Mutaion(Partially

acceptable) 2nd Base is Changed

Glutamate(Hydrophilic)

Valaine(Hydrophobic)

*The Sixth Amino Acid Residue

Abnormal Type of Haemoglobin HbS

Containing Faulty Beta Chain in the Hb Membrane

Hb is exposed to Low Oxygen concentrations

Precipitates into long Crystals in RBC

Sickle Appearance

Highly Fragile

Causing Anaemia

Glucose 6 PhosphateDehydrogenase(G6PD)Defficiency

*Important in the Hexose Monophosphate shuntOxidizing Glucose -6-Phosphate 6-Phosphoglycerte

NADP NADPH

This reaction is necessary in Red Cells1. It is the only source of NADPH2. Used via Glutathione to Protect the Red Cell from Oxidative damage.

3. Metabolic Defects

Inherited as Autosamal Recessive Reduced Production of ATP

Phosphoenolpruvate Pyruvate

Pyruvate Kinase

ADP ATP

•Cause Rigid Red Cells

Important in the Glycolysis

Pyruvate Kinase defficiency

AQUIRED HAEMOLYTIC ANAEMIA

1.) Immune

Auto Immune Haemolytic Anaemia

Drug Induced Immune Haemolytic Anaemia

Alloimmune Haemolytic Anaemia

-autoantibodies against erythrocytes

-Interaction between drug & RBC membrane produce antibodies

- Haemolytic Disease in New Born- Haemolytic Transfusion Reaction- After Transplantation(BM,Renal or cardiac)

Mechanical Haemolytic Anaemia-Red Cells may injured by, -Physical Trauma in the Circulation.

Paroxysmal Nocturnal Haemoglobnuria (PNH)

-Rare disease-Intravascular Haemolysis Occurs

2. Non Immune

THE END