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|Year : 1983 | Volume
| Issue : 4 | Page : 251-2
Sickle cell beta thalassemia with absence of spleen (a case report).
Hardikar JV, Nadkarni SV
|How to cite this article:|
Hardikar J V, Nadkarni S V. Sickle cell beta thalassemia with absence of spleen (a case report). J Postgrad Med 1983;29:251
Sickle cell B thalassemia is a type of haemolytic anemia where patient inherits sickle cell gene from one parent and B thalassemia from the other. The disease is characterised by hepatosplenomegaly and chronic anemia. In the present case, the patient had gall stones secondary to hemolytic anaemia. On exploration, the spleen was found to be absent. This rare manifestation prompted us to report the case.
A 24 year old male patient presented with recurrent attacks of abdominal pain, jaundice and fever off and on for about one year. There was a history of subtotal thyroidectomy done four years ago for thyrotoxicosis. There was no history of receiving any blood transfusion in the recent past. There was no jaundice amongst any of his siblings.
Physical examination revealed that the patient had normal build with poor nutrition. He had icterus. The liver was enlarged 2 cm below the right costal margin and was smooth and non-tender. The spleen was not palpable.
Laboratory investigations revealed haemoglobin to be 9.0 gm%; Total leucocyte count was 14000/cmm with P-50%, L-45%, M-2% and E-3%. The peripheral smear did not show any other abnormality. His serum total bilirubin level was 5.9 mg%. Sickling test was positive. Urine examination showed presence of albumin but absence of sugar.
Plain X-ray of the abdomen showed multiple radio-opaque shadows in the gall bladder area suggestive of gall stones. A diagnosis of haemolytic anemia was made. It was decided to do cholecystectomy and splenectomy for this patient. Exploratory laparotomy revealed the gall bladder to be completely filled with stones. The common bile duct was normal. Cholecystectomy was carried out. In the splenic fossa, there were dense adhesions but the spleen could not be detected. Splenic vessels could be palpated above the pancreas which ended blindly into the adhesions. No accessory splenic tissue was seen in the greater or lesser omentum. The post-operative period was uneventful.
The patient was given a maintenance dose of 15 mg of prednisolone daily. Both parents were examined for sickle cell trait. This patient was found to have inherited sickle cell gene from the father (as evident by a positive sickling test) and B thalassemia gene from the mother. Hb A2 in the mother was increased [Table - 1].
The patient is being followed-up in the O.P.D. He has a faint tinge of jaundice with serum total bilirubin of 2.4 mg%. At present he is totally asymptomatic.
Sickle cell B thalassemia was first described by Silvestroni and Bianco in 1944 as a microdrepanocytic disease. Serjeant et al studied the manifestations of this disease. It is characterised by hepatosplenomegaly, chronic anemia, recurrent attacks of pyogenic infections, avascular necrosis of the bones and subarachnoid haemorrhage. Splenomegaly was found to be present in 52% of the reported cases. In some cases, spleen was large enough to necessitate splenectomy. Our case surprisingly showed absence of spleen which is a rare incidence in this disease. It is probable that the spleen was destroyed by repeated infarctions.
We are thankful to the Dean, L.T.M. Medical College and L.T.M.G. Hospital, for permitting us to publish this report.
|1.||Davidsohn, I. and Henry, J. B.: "Todd and Sanford's Clinical Diagnosis by Laboratory Methods". 14th Edition, W. B. Saunders Company, Philadelphia, London and Toronto, 1969, p. 228. |
|2.||Serjeant, G. R., Ashcroft, M. T., Serjeant, B. E. and Milner, P. F.: The clinical features of sickle cell/B thalassemia in Jamaica. Brit. J. Hematol., 24: 19-30, 1973. |
|3.||Silvestroni, E. and Bianco, I.: Microdrepanocitoanaemia in un sogetto di razza bianca. Bollettino Atti Accademia Medica Roma, 70: 347, 1944. Quoted by Serjeant et al (1973). |