STUDENT

PROJECT
Congenital Hemolytic
Anemia

SGD B6
I Kadek Adi Paramartha
Eti Kurniaty
Ni Kadek Ariesta Dwijayanthi
Ida Ayu Cindy Agririsky
Nyoman Ananda Putri Prashanti
Petrus Kanisius Yogi Hariyanto
Theodore Dharma Tedjamartono
Torika Anggi Pradana
Merry Angeline Halim
Shaalini Arjunan
Kartiga Silvaraju

1302005014
1302005047
1302005060
1302005074
1302005097
1302005124
1302005137
1302005148
1302005170
1302005283
1302005286

CONGENITAL
HEMOLYTIC
ANEMIA

INTRODU

CTION

CONTENT

SUMMARY

INTRODUCTION
Hemolytic anemia was defined as an anemia
which is caused by hemolytic process. 1
Generally, hemolytic anemia could be
differentiated into 2 category: hereditary
hemolytic anemia or congenital hemolytic
anemia (CHA) and acquired hemolytic anemia.
CHA was an anemia caused by factors from
within its own erythrocyte (intracorpuscular). 1,2

CONTENT
1. Congenital Hemolytic
Anemia (CHA)
2. Epidemiology
3. Etiology
4. Pathophysiology

5. Diagnosis
6. Differential Diagnosis
7. Treatment and
Management
8. Prognosis

C O N G E N I TA L H E M O LY T I C A N E M I A
Hemolytic anemia is an anemia caused by
hemolytic process.1 Roughly, hemolytic anemia is a
condition of hemoglobin level less from its normal
condition because of the disentangle hemoglobin
process.
Hemolytic anemia is a result of the short time life
of red blood cell (RBC) because of increased RBC
hemolytic process, happened if there is failure ability
of bone marrow to compensated the condition.1,5

C O N G E N I T A L H E M O LY T I C A N E M I A
(CONT)
Congenital Hemolytic Anemia (CHA) is the type of
hemolytic anemia that caused by hereditary or family
genes, resulted by mutation that influence function
of RBC proteins.6
CHA divided again into three sub groups according
to its etiologies,1 which are membranopathy CHA,
enzymopathy CHA and hemoglobinopathy CHA.

EPIDEMIOLOGY
CHA is a very rare disease entity characterized by
premature RBC destruction and anemia due to intrinsic
RBC defects.8
Hereditary spherocytosis (HS) is the most common type of
CHA. The estimated prevalence of this membrane disorder
is 1 in 5000 in the white population of Northern Europe.
Red blood cell glucose-6-phosphate-dehydrogenase
(G6PD) deficiency is the most common enzyme disorder
worldwide, affecting 420 million of the world population. 9

ETIOLOGY
Red cell membrane disorders, example: HS,
hereditary elliptocytosis, hereditary
stomatocytosis.
Red cell enzymopathies, example: G6PD and
Pyruvate Kinase deficiencies.
Abnormal Hb, example: thalassemias and sickle
cell disease.10

PATHOPHYSIOLOGY
Red cell membrane disorders
Hereditary spherocytosis
Hereditary elliptocytosis (HE)
Hereditary stomatocytosis

Red cell enzymopathies

G6PD deficiency
Pyruvate Kinase Deficiency

PATHOPHYSIOLOGY
(CONT)
Abnormal Hb
Thalassemia
Sickle cell

DIAGNOSIS
Anamnesis the first step
Sacred seven
Basic four

Physical Examination

Splenomegaly
Hepatomegaly
Hb < 7 g/dL
Fluctuation icterus

DIAGNOSIS (CONT)
Hemoglobinuria
hemosiderinuria

Additional examination

Blood smear
Bone marrow examination
Fragility osmotic
Comb test
Electrophoresis

D IF F E R E N T I A L D IA G N O SIS
Acute bleeding anemia
Eritropoiesis anemia
Icterus without anemia
Mioglobinuria

TREATMENT AND
MANAGEMENT
Different for each etiology:
Hereditary Spherocytosis
Hereditary Elliptocytosis
Glucose-6-Phospate Dehydrogenase Deficiency
(G6PD)
Pyruvate Kinase Deficiency
Beta Thalassemia
Alpha Thalassemia

PROGNOSIS
The outcome of congenital hemolytic anemia
depends on the type and causes of hemolytic anemia.
Usually severe anemia can make heart disease, lung
disease or cerebrovascular disease worse.
Outcome of late anemia lead to antibody
persistence for weeks and causes continued
hemolysis

SUMMARY
Congenital hemolytic anemia (CHA) is the type of
hemolytic anemia that caused by hereditary or
familial genes as the result from mutation that
influences the function of red blood cell proteins.
The hemolytic itself is caused by the early
breakdown (<120 days) of erythrocyte due to three
general causes.