In The Name Of GODHuman Hemoglobin Variants

By : Reza Sahebi

RBC

Hemoglobin Molecule

Hemoglobin Genes

Oxygen Transport by Hemoglobin

Sickle cell anemia sickled shape,become, rigid, and move through the body with difficulty

Symptoms : breathlessness , rapid heart rate , delayed growth and puberty . Symptoms usually don't occur until after age 4 months

Hemoglobin E

single point mutation in the β chain : Glu Lys

Less well known variants

It is very common in Southeast Asia

Heterozygous AE occurs when the gene for haemoglobin E is inherited from one parent and the gene for haemoglobin A from the other. This is called hemoglobin E trait, and it is not a disease

RBC smaller than usual, but does not cause any health problems

Hemoglobin C

Glu Lys at the 6th position of the β-globin

Most people with the hemoglobin C disease don't have symptoms and can live normal lives, but they will have a low blood count or anemia

Enlarged spleen

Reduced red blood cell counts during infection or illness

Episodes of joint pain

Thalassemia

inherited blood disorders

make fewer healthy RBC and less hemoglobin Anemia

The patient's organs may be damaged, there is restricted growth, heart failure liver damage , and even death

Benefits : Protection against severe malarial anemia & Heterozygous (carrier) β thalassemia have some protection against Coronary heart disease

α - Thalassemias

Patient's hemoglobin does not produce enough alpha protein

excess of β chains in adults and excess γ chains in newborns

Deletion the genes HBA1 & HBA2 on chromosome 16

Unstable Tetramers

Hemoglobin H or HbH of 4 β chains , which have abnormal oxygen

dissociation curves

β - Thalassemias

Mutations in the HBB gene on chromosome 11

1. If one globin gene is mutated - the patient may have Beta thalassemia minor

2. If both globin genes are mutated - the patient may have either moderate or severe symptoms

Thanks For Your Attention