Hereditary anemia

Ainur Abdrakhmanova
 Hereditary hemolytic anemia

RBC membrane Hemoglobin

Sickle-cell anemia
Hereditary Thalassemia
spherocytosis RBC Congenital
Hereditary metabolism dyserythropoietic
G6PD
elliptocytosis Pyrovate kinase anemia
deficiency
Aldolase A deficiency
 Hereditary spherocytosis
BUT 20-25 % -
Autosomal recessive
Symptoms: dominant
Fatigue
Jaundice
Enlarged spleen
abdominal
discomfort
Fever
Headache
Vomiting
Leg sores
General weakness
Hereditary spherocytosis
Reticulocyte count: high
MCV: low

Trigger:
viral
infection
+ trauma,
pregnancy
 Hereditary elliptocytosis

Autosomal
dominant African or
Symptoms: Mediterranean
Fatigue
descent
Jaundice
Shortness of breath
 G6PD deficiency

X-linked African, Asian and

recessive
Symptoms: Mediterranean
Fatigue descent, mostly
Jaundice males
Shortness of breath Trigger:
Paleness infection,
Rapid heart rate antimalarial
Dark urine medication,
fava beans

Fxn: to protect RBC from accumulation of

reactive oxygen species
 Pyrovate kinase deficiency

Autosomal
recessive
Symptoms: Amish
Fatigue
Jaundice
Paleness
Enlarged spleen

Lack of ATP loss of K+ and

water dehydration
premature destruction
 Aldolase A deficiency

Autosomal
recessive
Symptoms:
Irritability
Jaundice
Enlarged spleen
Excessive
sleepiness
Myopathy
Convulsions
Participates in
glycolysis
 Sickle-cell anemia

African,
Autosomal
Mediterranean,
recessive
Symptoms: Indian descent,
Fatigue Spanish (South and
Jaundice Central America)
Dactylitis (painful swelling of legs and
hands)
Delayed growth and puberty
Joint complications
Weakness of arm or leg on one side
Trouble speaking, walking or
understanding
Fever, chest pain, shortness of breath,
cough
Sickle-cell anemia
HBB gene encoding for -
globin
HbS HbE
HbC
 - thalassemia

Autosomal
recessive
Southeast Asian,
Indian, Chinese,
Filipino,
Mediterranean and
African descent
 Silent carrier state No health problems (lack of protein
small)
Hemoglobin constant No health problems (mutation in -
spring globin )
thalassemia trait Smaller RBC account, mild anemia
(mild)
Hemoglobin H disease Severe anemia, bone deformities,
enlarged spleen, fatigue. Abnormal H
hemoglobin made by globin RBC
destruction
Hemoglobin H- Severe anemia, enlarged spleen,
constant spring frequent viral infections

Homozygous constant < Hemoglobin H constant

spring ~ Hemoglobin H disease
Hydrops fetalis No genes globin hemoglobin
(Thalassemia major) Barts (abnormal)
Die before or shortly after the birth
 - thalassemia

Autosomal Southeast Asian,

recessive Indian, Chinese,
Filipino,
Mediterranean and
African descent
Minor Carrier, no health problem, possible mild anemia

Interme Moderately severe anemia, bone deformities, spleen

dia enlargement, require blood transfusion to improve
quality of life not survive
Major Complete lack of protein life-threatening
(Cooley anemia regular blood transfusions iron overload
(chelation therapy)
s
 Congenital erythropoietic
anemia
Autosomal dominant (type I
and II)
Autosomal recessive (type
Symptoms:
III)
Fatigue Type I - unknown
Jaundice Type II the most
Paleness common
Enlarged spleen Type III rare,
Enlarged liver Sweden, Argentina,
the US
Disruption of RBC
development
 Reference
Aldolase A deficiency. Retrieved from http://
www.checkorphan.org/diseases/aldolase-deficiency
Anemia, hereditary nonspherocytic hemolysis. Retrieved from
https://rarediseases.org/rare-diseases/anemia-hereditary-nonspherocytic-hemolytic /
CDA. Retrieved from
https://ghr.nlm.nih.gov/condition/congenital-dyserythropoietic-anemia#diagnosis/
Hereditary elliptocytosis. Retrieved from https://
medlineplus.gov/ency/article/000563.htm
Hereditary spherocytosis. Retrieved from
http://www.seattlechildrens.org/medical-conditions/heart-blood-conditions/hereditary-s
pherocytosis
/
Hereditary spherocytosis. Retrieved from
https://ghr.nlm.nih.gov/condition/hereditary-spherocytosis#synonyms
G6PD deficiency. Retrieved from https://
ghr.nlm.nih.gov/condition/glucose-6-phosphate-dehydrogenase-deficiency#diagnosis
Pyrovate kinase deficiency. Retrieved from
http://emedicine.medscape.com/article/2196589-overview#a3
Sickle cell anemia. Retrieved from https://
ghr.nlm.nih.gov/condition/sickle-cell-disease#inheritance
Thalassemia. Retrieved from
http://www.thalassemia.org/learn-about-thalassemia/about-thalassemia /