1Learn…ignorance will disappear of itself…!

….. foundation of clinical medicine

Shashidhar Venkatesh MurthyA/Prof & Head of Pathology

College of Medicine & Dentistry

Clinical Pathology:

RBC 1.4: Congenital Hemolytic Anemia

CPC : Term2 Week1 - Haem 1/2.

System : Haematology - RBC Disorders.

Topic : 1: Anemia Intro 2: IDA, MBA & ACD 3: Acquired HA 4: Congenital HA. 5: Others.

Pathogenetic Classification of Anemia:

Decreased Production:

Nutrient Deficiency.

Iron def (IDA) / Megaloblastic (MBA)

Hemopoietic cell defect:

Anemia of chronic disorders (ACD)

Aplastic anemia (AA).

Dysplastic anemia. Myelodysplastic Syndromes

Increased loss / destruction:

Blood loss anemia – Acute / Chronic - bleeding.

Hemolytic anemia – Congenital / Acquired.

Acquired / External injury.

Immune AIHA (Warm/Cold) Mechanical, Drugs & Parasites

Congenital / Internal RBC defect Defective Membrane: Hereditary Spherocytosis.

Defective Hemoglobin: Sickle & Thalassemia

Deficient Enzyme: G6PD deficiency anemia.3

3•Cell Mem

•Hb.

•Enzymes

Hereditary Spherocytosis: Spectrin deficiency*

4

1. Chronic hemolytic anemia (from birth or late)

2. Plenty of spherocytes. (more than in WAHA)

3. Massive splenomegaly.

4. Cholecystitis and cholelithiasis

5. Aplastic, megaloblastic or hemolytic crisis

(Comb’s test negative)

Hereditary Spherocytosis:

5

Normal spleen

size of a fist…!

Splenectomy: Therapy for severe HS

G6PD Deficiency: Oxidative hemolysis

1. G6PD deficiency.

2. Oxidative damage (old RBC)

3. Heinz bodies (globins)

4. Bite & blister cells (dry RBC*)

5. Episodic Hemolysis.

6. Splenomegaly, gall stones..

6

"Thinking should become your

capital asset, no matter whatever

ups and downs come across in

your life.

― Dr. APJ Abdul Kalam, Former President of India..

Hemoglobin Disorders:

8

Physiologic

anemia –

change from Hb

F to Hb A.

Hb A α2β2 - 97%

Hb A2 α2δ2 - 2.5%

Hb F α2γ2 - <1%

HbF HbA

Hb F - α2γ2- 75%

Hb A - α2β2 25%

Congenital Hb. disorders: Globin chain*

• Qualitative: Hemoglobinopathy eg. Sickle

• Quantitative: Thalassemia syndromes.

Hb Electrophoresis:

9

-

Patient

Hb-S

Hb-F

Hb-A

Hb Barts

(β4)

+

ControlA B C D

αThal

Normal

αThal+

Sickle.

Sickle

New born Screening

ThalassemiaPathologenesis

10

• Heinz bodies.

• Basophilic stippling.

Normal Hb. - micro/hypo

Destruction - Hemolysis.

Marrow Hyperplasia.

Iron - Hemochromatosis

Trait - Minor - Major

Thalassemia:

11

Quantitative - globin deficiency.

Defective globin chain synthesis.

α, β, , , … types.

normal Hb & Abnormal globin complexes.

α thal α Hb excess β forms abnormal tetramers (Heinz bodies, basophilic stippling etc)

Minor: Normal / mild anemia. micro hypo, target cells.

Major: severe Haemolytic anemia (transfusion dependent)

Minor / Trait

Major / Disease

"Thinking should become your

capital asset, no matter whatever

ups and downs come across in your life.

― Dr. APJ Abdul Kalam, Former President of India..

Sickle Cell Anemia: Hemoglobinopathy.

13

Acute Chest Syndrome

Sickle Cell Anemia

Sickle Cell

Disease:Clinical Features:

15

1. Anemia

2. Jaundice

3. Gall stones

4. Leg Ulcers

5. Auto-splenectomy.

6. Crisis*

Splenic atrophy – (Auto-infarction)

The power of thought is not a

compelling force. It is a building force,

and it is only when used in the latter

sense that desirable results can be

produced.

-- Christian D. Larson

Need help? contact me…

1. Office location: DB39-136 (Townsville)

2. Office Tel: 4781 4566

3. Email: venkatesh.shashidhar@jcu.edu.au

4. Emergency?: 0416933704

Need personal coaching?Email me for an appointment.

You are the stone..

The pessimist waits for better times,

and expects to keep on waiting; the

optimist goes to work with the best

that is at hand now, and proceeds to

create better times.

-- Christian D. Larson