Sickling Disorders
1 Sickle cell trait-Less than 50% HbS per cell is usually not associated with clinical abnormality Infarction of spleen may occur during anaesthesia, and hematuria is not uncommon
2 Sickle-cell anemia-Anaemia from about third. month of life
Clinical features
1. Delayed growth and development
2 enlargement of spleen after 6month . Later at 5-6 yrs of age, reduction in size due to multiple infarcts from veno-occulusion of branches of splenic artery. In adults, spleen may be totally replaced by fibrous tissue (autosplenectomy).
3. Leg ulcers-Shallow ulcers near ankle due vascular stasis and often after trauma.
4. Hand-foot syndrome - Painful swelling of hands and feet. Vaso-occlusive crisis and dactylitis leads to destruction of metacarpals, metatarsals and phalanges.
5. CNS-Brain syndrome in a few children, occulsion of cerebral vessels leads to stroke.
6. Infections-Pneumococcal pneumonia, meningitis due to hyposplenism, osteomyelitis due to salmonella from repeated bone infarcts.
7. Cardiomegaly due to hyperdynamic circulation as blood. a result of chronic anemia.
8. Ocular complications-Occlusion of retinal vessels. causes retinal changes such as 'salmon patches', intraretinal hemorrhages, A-V anastomosis.
9. Gall stones - pigment gall stone increase in frequency from childhood to adult.
10.Abdominal pain occurs due to infarcts of abdominal viscera due to vaso-occlusive crises
11. Priapism - due to stagnation of blood in corpora cavernosa .
Complications of sickle cell anemia
• Sickling and periodic exacerbations (crises ) unless patient is exposed to extreme hypoxia.
Painful crises are usually the result of either reduced blood flow leading to tissue infarction, or sequestration of sickled RBCs in various organs. Crises can be precipitated by infection, dehydration and exposure to low temperatures. In first year of life, a common presenting feature is painful swelling of hands and feet hand-foot syndrome. In older children and adults, severe pain in the limbs and back associated with fever and prostration. Less commonly sickling may give rise to cerebral or pulmonary infarction
Aplastic crises are characterized by falling Hb level, and absent reticulocytes and are caused by parvovirus
B¹⁹ infection.
Sequestration crises occur when sickled RBCs pool in spleen, liver or lungs. Splenic enlargement is a life- threatening complication seen in early childhood. It is characterized by massive enlargement of the spleen together with sharply falling in Hb level and rising reticulocyte count. A serious chest syndrome can occur, with bilateral radiographic changes, tachycardia, fever, profound hypoxemia and rapidly falling Hb level. The steady state Hb level is 5-11 g/dl. Blood film shows polychromasia, target cells and irreversibly sickled RBCs.
Diagnosis of sickling disorders
1. Sickling test - Sickling is induced by adding reducing agent like 2% sodium metabisulphite to
2 Hh electrophoresis can be performed on cellulose acetate membrane or starch agarose. HbS is a slow moving Hb as compared to HbA and HbF. In HbSS, HbS constitutes 70-90% fo total Hb but HbA is nil. This differentiates homozygous (SS) from heterozygous state (SA), since the latter demonstrates two bands of HbS and HbA
3. HbF estimation since Hbf is 10-30% in homozygous state and and helpful in assessing course of the disease.
4. High performance liquid chromatography (HPLC) gives exact amount of HbA, HbS, HbF and HbA.
5. Globin chain analysis may be required to assess the genetic basis of diseae and differentiate it from various heterozygote states.
6. HbS solubility is based on the fact that sickle Hb is insoluble in deoxygenated state.
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Management —
(a) Between crises - Patient should be given folic acid regularly, and infection treated early with antibiotics.
(b) During crises- Rest, analgesics, hydration, correction of acidosis, plasma volume expander
and oxygen.
(c) Exchange blood transfusions
if PCV falls
dangerously, cerebrovascular symptoms in early childhood, recurrent pulmonary thrombotic episodes, and to suppress the sickling process e.g. to permit major surgery, during pregnancy or to
'break' a cycle of painful crises.
(d) Further management Bone marrow transplantation offers opportunity for cure. Criteria for acceptance - (i) Age < 16 with sibling matched for HLA. (ii) Presence of one or more of- Neurological deficit, CVA or SAH. (iii) Two or more episodes of acute sickle chest syndrome or stage I and II chronic sickle lung disease. (iv) Recurrent severe and debilitating pain. (v) Problems for future medical care.
Some of tablets are there to treat sicking disorders:-
Refrance - Aspif Golwalla and Sharukh A Golwalla
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From
Medical Help Desk
contact:- 7898892146
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