اشرح لي صدري و { ر لي رب يس

اني أمري واحلل عقدة من ل س

}يفقهوا قولي

حيـــــــــــــم حمن الر بســــــــــــــم هللا الر

Child with pallor and jaundiceby 5th year medical students_ Tripoli university

group 6

(Haemolytic anaemia)

CONTENTS

• Introduction

• Sickle cell anemia

• Autoimmune (AIHA)

• Thalassemia

Jaundice is yellowish discoloration of skin and mucous membranes due to ↑ in

blood bilirubin

Pallor is is a pale color of the skin which can be caused by illness, emotional shock or

stress, or anemia,,, and is the result of a reduced amount of oxyheamoglobin in skin or mucous membranes

Anemia is HB level below the normal rage according To age

Neonate <14g/dl1_12 months <10g/dl1-12 year<11g/dl

Anaemia results from the following mechanisms:

1_reduced red cell production - either due to ineffective erythropoiesis (e.g. iron deficiency, the commonest cause of anaemia) or due to red cell aplasia

2_blood loss3-increased red cell destruction (haemolysis)

What is hemolytic anemia?

It is ↓ red cell life span due to ↑ red cell destruction in the circulation (intravascular) or in liver & spleen (extravascular)

note: BM can ↑ production about 8 fold , so symptoms & signs of hemolytic anemia appear when the BM no longer able to compensate for the premature destruction of RBCs(exeeding BM capacity for compensating)

Haemolytic anaemia

Red cell mem

disord.

ImmuneHaemoglobinopathiesRed cell enzyme

disord.

Hereditary

Spherocytosis

G6PDH

Def.

Thalassaemia

AIHA

Sickle cell

anemia

Hereditary spherocytosis: A genetic disorder of the red blood cell membrane

clinically characterized by anemia, jaundice (yellowing) and splenomegalyM.O.IIt is AD disease .

Defect or Deficiency of Beta Spectrin or Ankyrin Loss of membrane surface areabecomes more spherical Destruction in Spleen

Clinical picture*jaundice - usually develops during childhood but may be intermittent; may

cause severe haemolytic jaundice in the first few days of life

*anaemia - presents in childhood with mild anaemia (haemoglobin 9-11g/dl),

but the haemoglobin level may fall with an intercurrent infection; many children have 'compensated' haemolysis with a normal haemoglobin

* splenomegaly - depends on the rate of haemolysis;

* gallstones - due to increased bilirubin excretion

InvestigationCBCBlood filmOsmotic fragility test

• Treatment• oral folic acid as they have a raised folic acid

requirement secondary to their increased red blood cell production. .

• Splenectomy is beneficial but is only indicated for poor growth or troublesome symptoms of anaemia (e.g. severe tiredness)

Autoimmune Hemolytic Anemia:

(AIHA) Autoimmune disease involving auto-antibodies directed toward RBC surface antigens leading to accelerated destrution (hemolysis).

Etiology:

1. Idiopathic (most common cause).

2. Autoimmune disease: (SLE,RA).

3. Neoplastic: e.g lymphoma, myeloma

4. Drugs: methyldopa,penicillin

5. Infection: mycoplasma, EBV

Clinical picture:

_ Anemia + jaundice.

_ hand, foot and cyanosis (cold type).

_splenomegaly (warm type).

Two main types:

%

Site

Antibody

Active temperature

Treatment

Warm AIHA

80% of cases

Extravascular hemolysis

IgG

37 degree

Steroids & splenectomy.

Cold AIHA

20% of cases

Intravascular hemolysis

IgM

4 degree

Warming & plasmapheresis.

Investigation:

_CBC: normocytic normochromic or macrocytic hyperchromic.

_Blood film: spherocytosis, schistocytes.

_Direct antiglobuline test(Coombs’ test) : +ve

treatment:

_Treat underlying causes.

_Corticosteroids: response may take 3 weeks

_Splenectomy.

_Immunosuppressive therapy.

_Blood transfusion.

ThalassemiaGenetic disorders of Hb synthesis with ↓ produc.of either α or ß

polypeptide chains of Hb molecules (α-thalass. or ß- thalass.)

M.O.I : AR

ß -thalass. Carrier Carrier

Diseased

Onset : ≥ 6 months “ complete switch from fetal

Hb α2δ2 to adult Hb α2ß2 “

HistoryOnset of anemia > 6 months

Symptoms of anemia

FTT

History of frequent blood transfusion

not improve with iron supplement “ if minor”

positive FH

C\P & Complic.

Thalassaemic face

Causes of mortality: high output HF from sever Anm. or iron overload

Investigation

MCH↓ &CBC : ↑Retics. \ ↓MCV

Bld film\ target cells (T) ,

Poikilocytes (p) , microcytes (M)

Hb electrophoresis :↑↑Hb F

US “gall stone”

Imaging :

Pathological fractureSC compression

Management1-Monthly bld transfusion (aim : Hb >10g\dl , reduce growth failure ,

prevent bone deformation)

2-Iron chelation therapy (each unit of transfused RBCs contain 200mg

elemental iron)

3-Folic acid (hyperactive BM)

4-Splenectomy (if hyperactive \ after vaccination).

5-Cholecystectomy (for bilirubin stone)

*gene therapy “deliver globin gene into cells by viral vector”

*Emerging therapy “induce F-Hb by butyrates”

*BM transplant : (young , HLA match, no organ dysfunction.)

What is the Difference ß- thalass.minor & IDA?

NOTE :(both are microcytic hypochromic) Iron def. anemiaß-Thalassemia minor

Reticulocytes↓Reticulocytes↑

No abnormal cells , ↓ RDWTarget cells in bld film, normal RDW

Serum ferritin↓Serum ferritin↑

IRBC↑IRBC↓

normal HbHb A2 By electrophoresis↑

1 α-gene

Normally we have 4 α- globin genes

All α-gene2 α-gene 3 α-gene

Silent

carrier

α-thalass.

traitHHD

Hb-H

α-thalas. major

”Hb barts

hydrops

fetalis”

α- thalassaemia

Asymptomatic

REFERENCES Illustrated textbook of pediatrics

www.Medscape.com

www.pubMed.com

www.Sehha.com