Gallbladder o bone marrow transplants the only

gallbladder
O Bone marrow transplants - the only current cure
oGene therapy
Complications
Iron toxicity:
Hemochromatosis = iron overload due to repeated blood transfusions ,

Intro Blood 10*-+
- saturation of IBPs & hemosiderin in the liver tissue (can be treated by periodic blood removal or drugs
enhancing excretion)
Avoid iron supplements
2. Sickle cell disease
- An inherited, autosomal recessive disorder caused by mutation in the b globin gene leading to
abnormal hemoglobin - HbS
- HbS formed by the replacement of an Glu with Val , in the b- chain, secondary to a mutation of a base on
the DNA (flipping of A &T)
- Causes profound changes in hemoglobin
stability and solubility
- Under decreased oxygen tension,
hemoglobin S undergoes polymerization
causing the red blood cell to assume a
sickle shape
- Most common and most severe form of the
hemolytic anemias
- Very frequent among Blacks from the sub-Sahara
Africa (9-10% are gene carriers)
- Individuals with sickle cell anemia have a
protective effect against malaria
Severe Anemia
● Sickled RBC are mechanically weak, have
decreased survival time & are prone to intravascular
hemolysis (jaundice)
● Chronic hyperbilirubinemia
Vessel occlusion
-sickle shape increases likelihood of thrombosis
● venous thrombosis; arterial emboli
● cardiac & renal failure
● frequent, often serious, even lethal infections
● retinopathies (due to microthrombosis)
● pregnancy accidents-higher rates of miscarriages
Pulmonary & cardiovascular complications
● chamber enlargement related to significantly increased forward output due to chronic anemia
● myocardial infarction from vasoocclusion of the coronary arteries
● RV dysfunction may lead to pulmonary hypertension
Splenomegaly, hepatomegaly, hypogonadism
Children : impaired growth in children: bony abnormalities
Treatment
The disease has no widely available cure . Treatment strategies are based on preventing crisis and symptom
management

Intro Blood 11*-+
O Management of chronic pain syndromes; vaso-occlusive syndrome & chronic anemia
O Vaso-occlusive crisis: rehydration therapy to reverse the dehydration & hypoxia
O Transfusions: replacement of sickle cells with those of normal RBCs
O Acutely painful episodes are managed with morphine.
O Chronic pain is also managed using NSAIDs
O Treatment of complications
● Management of complications of organ damage; prevention of stroke; detection and treatment of
pulmonary hypertension
O Prevention of sickling crisis
● Prevention and treatment of infections, avoid cold, dehydration etc
● Infections are managed using antibiotic prophylaxis and early immunization for Pneumococcus and
Meningococcus infections
- Newer options
- Bone marrow stem cell transplantations (85% diseases free rate)
- Inhalation of nitrous oxide (dilates blood vessels)
- Hydroxyurea: an antineoplastic drug increases production of fetal hemoglobin( which does not
sikel)
3. Hereditary Spherocytosis
● the most common cause of inherited anemia in individuals of Northern European ancestry (1:2000)
●