Hemoglobin types can be associated with various diseases. Hemoglobin S causes sickle cell disease where red blood cells become rigid and crescent shaped, blocking vessels. Sickle cell trait carriers have one normal and one abnormal beta chain. Hemoglobin E causes mild anemia and spleen enlargement in those with two copies, while one copy usually does not cause symptoms. Hemoglobin C disease causes minor anemia and spleen enlargement in homozygotes. Hemoglobin H occurs in alpha thalassemia and is unstable, forming solid structures in red blood cells. Hemoglobin F is elevated in some disorders and provides protection against sickling in sickle cell disease.

1. Hemoglobin types and associated Diseses
Asmaa AbdelRahman Abdelhakeem
20141614
Group A

2. Types of Hemoglobin and associated with
Diseases
this is the primary hemoglobin in:SHemoglobin-1
.sickle cell diseasepeople with
Those with Hb S disease have twoabnormal betachains and two
normal alpha chains. The presence of hemoglobinS causes the red
blood cell todeform and assume a sickle shape whenexposedto
decreasedamounts of oxygen(such as might happen whensomeone
exercises or has infectioninthe lungs).
Sickledredblood cells are rigidand can block small blood vessels,
causing pain, impairedcirculation, anddecreasedoxygendelivery, as
well as shortenedredcell survival.
dwiththalassemiaor Hemolglobinc....Associatey) copSsingle beta (β:Sickle celltrait**
Hemoglobin E:-2
** is one of the most common betachain hemoglobinvariants in the
world.
)E
People who are homozygous for Hb E (have two copies of β#
redbloodcells, and, microcyticmild hemolytic anemiagenerally have a
a mild enlargement of the spleen.
does not cause symptomsA single copy of the hemoglobinE gene#
unless it is combinedwithanother mutation, such as the one for beta
thalassemiatrait.
Hemoglobin c:-3
HemoglobinC disease (seenin homozygotes, thosewithtwocopies) is
rare

3. Usually Heterozygotes (hemoglobinC trait).
minor amount of hemolyticusually causes aHemoglobinC Disease
.anemia and a mildto moderate enlargement of the spleen.
:Hemoglobin H-4
#Hb H is an abnormal hemoglobinthat occurs insome cases of alpha
thalassemia.
It is composedof four beta(β) globinchains and is produceddue to a
severe shortage of alpha(α) chains.
Althougheachof the beta(β) globinchains is normal, the tetramer of 4
betachains does not functionnormally.
It has an increasedaffinity for oxygen, holding onto it insteadof
releasing it tothe tissues andcells.
HemoglobinH is also associatedwithsignificant breakdownof red
solidstructures) as it is unstable and tends toform(hemolysisblood
withinredblood cells.
Serious medical problems are not common in people withhemoglobin
anemia.H disease, thoughthey oftenhave
Hemoglobin F:-5
#Hb F is the primary hemoglobinproducedby the fetus, and its role is
to transport oxygen efficiently inalow oxygenenvironment.
Productionof Hb F decreases sharply after birthandreaches adult
levels by 1-2 years of age.
Hb F may be elevatedinseveral congenital disorders.
andbetathalassemiaLevels canbe normal to significantly increasedin
andinsickle cell anemiaare frequently increasedinindividuals with
sickle cell-betathalassemia.

4. Individuals withsickle cell diseaseandincreasedHbF often have a
milder disease, as the F hemoglobininhibits sickling of the red cells.
Hb F levels are alsoincreasedina rare conditioncalledhereditary
persistence of fetal hemoglobin(HPFH).
This is a group of inheriteddisorders inwhichHbF levels are increased
without the signs or clinical features of thalassemia.
are alsomyeloproliferative neoplasmsandothereukemiaslSome
associatedwithmildelevationinHbF.
Hemoglobin barts:-6
Hb Barts develops infetuses withalphathalassemia.
It is formed of four gamma (γ) proteinchains whenthere is a shortage
of alpha chains, ina manner similar tothe formationof HemoglobinH.
If a small amount of Hb Barts is detected, it usually disappearsshortly
after birthdue to dwindling gamma chain production.
These childrenhave one or two alpha gene deletions andare silent
carriers or have the alpha thalassemiatrait.
If a childhas a large amount of Hb Barts, he or she usually has
hemoglobinH disease anda three-genedeletion.
andusually dohydrops fetalisgene deletions have-Fetuses withfour
not survive without bloodtransfusions andbone marrow transplants.
Hemoglobin SC disease:-7
inheritance of one beta S gene and one betaC gene results in
HemoglobinSC disease.
have a mild hemolytic anemiaand moderateThese individuals
.enlargement of the spleen

5. occulsive-vasoSC disease may developthe samePersons withHb
as seeninsickle cellanemia, butblocking) complications-(blood vessel
most cases are less severe.
Hemoglobin D disease:–Sickle Cell-8
individuals withsickle cell –Hb D disease have inheritedone copy of
hemoglobinS
sickle crisesandmoderateThese people may have occasional
.hemolytic anemia