This document discusses causes of pallor and jaundice in a child, including hereditary spherocytosis, glucose-6-phosphate dehydrogenase deficiency, sickle cell anemia, thalassemia, and autoimmune hemolytic anemia. It provides details on the mechanisms, clinical presentations, investigations, and management of each condition. Hereditary spherocytosis is caused by a red blood cell membrane defect, resulting in destruction in the spleen. Thalassemia and sickle cell anemia are hemoglobinopathies caused by genetic defects in hemoglobin production or structure. Autoimmune hemolytic anemia occurs when antibodies destroy red blood cells. Distinguishing features, treatments including transfusions, splenectomy, and

1. بِّســْــــــــــــمِّ الله ال رحمن ال رحيـــــــــــــمِّ
{ رَ بِّ اشْرحْ لي صدْري وي سرْ ليَ
أمري واحْلُلْ عُقدةً من لِّ ساني
يَفْقهوا قوْلِّي }

2. Child with pallor and jaundice
by 5th year medical students_ Tripoli university
group 6
(Haemolytic anaemia)

3. CONTENTS
• Introduction
• Sickle cell anemia
• Autoimmune (AIHA)
• Thalassemia

4. 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/dl
1_12 months <10g/dl
1-12 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 loss
3-increased red cell destruction (haemolysis)

5. 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)

7. Haemolytic anaemia
Red cell mem
disord.
Red cell enzyme Haemoglobinopathies Immune
disord.
Hereditary
Spherocytosis
G6PDH
Def.
Thalassaemia
AIHA
Sickle cell
anemia

8. Hereditary spherocytosis: A genetic disorder of the red blood cell membrane
clinically characterized by anemia, jaundice (yellowing) and splenomegaly
M.O.I
It is AD disease .
Defect or Deficiency of Beta Spectrin or Ankyrin  Loss of membrane surface area
becomes 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

9. Investigation
CBC
Blood film
Osmotic fragility test

10. • 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)

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

12. 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

13. Clinical picture:
_ Anemia + jaundice.
_ hand, foot and cyanosis (cold type).
_splenomegaly (warm type).

14. 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.

15. Investigation:
_CBC: normocytic normochromic or macrocytic
hyperchromic.
_Blood film: spherocytosis, schistocytes.
_Direct antiglobuline test
(Coombs’ test) : +ve

17. treatment:
_Treat underlying causes.
_Corticosteroids: response may take 3 weeks
_Splenectomy.
_Immunosuppressive therapy.
_Blood transfusion.

18. Thalassemia
Genetic 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 “

20. History
Onset of anemia > 6 months
Symptoms of anemia
FTT
History of frequent blood transfusion
not improve with iron supplement “ if minor”
positive FH

21. CP & Complic.
Thalassaemic face
Causes of mortality: high output HF from sever Anm. or iron overload

22. Investigation
CBC : ↑Retics. ↓MCV &↓ MCH
Bld film target cells (T) ,
Poikilocytes (p) , microcytes (M)
Hb electrophoresis :↑↑Hb F
US “gall stone”
Imaging :

23. Pathological fracture
SC compression

24. Management
1-Monthly bld transfusion (aim : Hb >10gdl , 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.)

25. What is the Difference ß- thalass.minor & IDA?
NOTE :(both are microcytic hypochromic)
ß-Thalassemia minor Iron def. anemia
↑Reticulocytes ↓Reticulocytes
Target cells in bld film, normal RDW No abnormal cells , ↓ RDW
↑Serum ferritin ↓ Serum ferritin
↓IRBC ↑ IRBC
↑Hb A2 By electrophoresis normal Hb

26. 1 α-gene
Normally we have 4 α- globin genes
2 α-gene 3 α-gene All α-gene
Silent
carrier
α-thalass.
trait
HHD
Hb-H
α-thalas. major
”Hb barts
hydrops
fetalis”
α- thalassaemia
Asymptomatic

27. REFERENCES
 Illustrated textbook of pediatrics
 www.Medscape.com
 www.pubMed.com
 www.Sehha.com