heamoproteins 3 Flashcards
the common forms of heanglobin:
- HBA adult ( 2 alpha , 2 beta )
- HBF foetl ( 2 alpha 2 gamma )
- HBA2 minot adult form ( 2 alpha 2 delta )
- HBS sickle cell anmeia ( 2 alpha , BS2 )
alpha globin genes are located on the human chromosome — and – genes copies per chromsome
chromosome 16
2 genes copies
beta globin gene is located in chromosome — and only – gene copy per choromome
other globin genes rathe than beta can be: delta or gamma
- 11
-1 gene copy
— has 2 alpha and 2 beta and the prosthetic group is —- that is tightly bound to the protein and required for the proteins activity
HBA , fe II protprophyin IX
– measures the strength of binding to oxygen and is defined by Po2 which % saturation is — %
- p50
- 50%
- HBA: p50 is 26 torr in normal rbc
- mb: p50 = 1 torr
– is the natural variant of haemoglobin and consist of —
foetal hemoglobin , 2 alpha 2 gamma
— is the main oxygen transport protein in the foetus during the last seven months of the development of the uterus snf in the new born until roughly 6 month
foetal heamoglobin
the foetal haemoglobin differs from adults bc its able to bind oxygen with — than adults
greater affinity and is more tightly
p50: 19 torr bc it reaches the 50% saturation w/ 02 at lower 02 pressure
-oxygen passes across the placenta from — into the —-.
maternal HBA releases oxygen at the — but the oxygen concentration( partial pressure ) is —
- maternal bloodstream into fotwal bloodstream
- placenta
- low
tighter oxygen binding at the HbF allows the foetus to
pick up as much o2 as possible
Mutant haemoglobin is due to the changes in — of the globin genes which leads to changes in —- and eventually changes in —- which leads to —-
- dna base sequence
- amino acid sequexzne of globin
- protein structure and function
- inhereted disease
- clinical sydrom vary from mild to severe and can be fatal depending of the nature of the mutation
– is a globin defect w/ normal amount of defective globin subunits
haemoglobinopatheis
abnormal amount of normal globin subunit refers to —
thalassamia
is also known as the qualitative defect
haemoglobinopathesis
is also known is qanrative defect
thalassanias
haemoglobin M ( HbM) is an example of –
heamoglobinopathy
the amino acid substuition refers to — and the proximal histadine residue is replaced by — in either alpha or beta.
This leads to oxidation of haem iron from — to — in the presence of 02 and proximal tyrosine
- Haemoglobin M
- tyrosine
- fe(ii) ferrous to fe( iii) ferric
haemoglobin S is an example of —
haemoglbinpathy
— refers to the amino acid substition in —
the glutamate ( ch2ch2coo- ) is replaced by —
- haemoglobin S
- exterior of beta subunit
- valine ch(ch3)2
in deoxyheamoglobin S , valine is exposed to surface and creates —. The HbS moliucles aggregate to from — with erythrocytes this leads to — and they get stuck in small capillary beds
- sticky patch
- insoluble fiber
- sickle cell anaemia
( steps: polar hydrophobic interactions –> superpolymer –> precipitate out )
-the short term consequence to HbS is — and long term leads to —
- the diagnosis is by —-
- treatment by —
- bone pain due to the sickle cells are stuck in capillary beds
- chronic anemia due to the destruction of rbc, organic damage as kidgney,heart,lungs, cerebrovacualr accidents
- protein or dna analysis
- repeated blood transfusion
— refers to a disorder caused by weakening and destruction of rbc and causing by – or – genes that affects how the body produce —
- thalasmeia ( aka quantitive disorder of too little alpha or beta )
- varient or missing
- haemoglobin
alpha thalassamia refers to –
beta thalassemia refers to —
common is mediterian areas and parts of African and south east Asia and syndromes depends on specific mutation
- too little alpha goblin chain
- too little beta globin chain
