Hepatic Hematopoiesis In β- Thalassemia

摘要

Tumor-like extramedullary hematopoiesis with liver localization in beta-thalassemia is an extremely rare clinical phenomenon and a prerequisite for serious deferential diagnostic problems. We present a case of homozygous beta-thalassemia in a 23-year-old woman.The patient was examined by abdominal ultrasonography and CT scan because of biliary crisis and found to have microconcrements in the gallbladder and a tumor-like formation (34 x 30 mm) in the 7th liver segment. Conventional cholecystectomy was performed. The histological examination showed it focal extramedullary hematopoiesis with an underlying diagnosis of Cooley’s anemia. Differential diagnostic difficulties and necessary diagnostic steps are discussed. Fine needle biopsy and/or immunohistochemical examination are the best methods for the precise diagnosis of extramedullary hematopoiesis. Introduction The complete or partial blockade of the synthesis of one or more polypeptide globin chains in cases of thalassemia results in a compensatory but defective erythropoiesis. In rare cases, this erythropoiesis goes out of the bone marrow and forms foci in different organs. Although it is quite rare such an extramedullary expansion in the liver is a serious diagnostic problem and is a prerequisite for unnecessary and even dangerous therapeutic interventions [1]. Case presentation We present a 23-year-old woman with major β-thalassemia, blood transfusion dependent, with a compensated anemia and optimal level of serum iron being at constant application of Desferal. A splenectomy was performed at the age of 8. A month before she was hospitalized she had fever up to 38C, nausea, vomiting, pain and discomfort in the right hypochondrium. Concrements in the gall bladder were found by ultrasonographic examination, which also visualized a formation 3,0 cm in diameter in the right lobe of the liver. Eight months later she presented with symptoms of biliary crisis.The clinical examination found a typical mongoloid face, subicterus of the skin, mucosa and sclera. Lungs examination proved normal, there was a moderate cardiomegally, liver was enlarged, and palpable 6 cm bellow the costal margin.Blood tests showed ESR 40mm, hemoglobin 73 - 106 g/l, red blood cells 3.37 - 4.02 x106/μL, white blood cells 53 – 35 x103/μL, platelets 688-533 x103/μL, reticulocytes 41/1000, normal differential blood count, erythroblasts in peripheral blood 85/100. Electrophoresis of hemoglobin found hemoglobin A 30.7%, hemoglobin A2 5.1%, hemoglobin F 64.2%. Iron in the serum was 21?mol/l, LDH 509, total billirubin 33.3 mmmol/l, direct fraction 13.1mmol/l, coagulation status PT 12.3”; APTT 31.8”, TT 18.2”, fibrinogen 2.5g/l. Alcaline phosphatase, AST, ALT, GGTP, serum holinesterase, total protein and albumin were normal. Serology for echinococcosis was negative.On abdominal ultrasonography the liver presented with smooth outlines, isoechogenic structure and enlarged in size. In the right hepatic lobe a tumor mass 34x30mm was found. The gall bladder was with smooth outlines, normal walls and about 10 concrements in it, 4-5mm in size. The choledoch duct and the portal vein were normal.Abdominal CT scans with oral and intravenous contrast enhancement showed enlarged liver with preserved structure. There was an initial ectasia of the intrahepaic billiary ducts. Gall bladder was enlarged with small positive concrements in it.A small tumor mass, 35mm in diameter, in the 7th hepatic segment was found near its wall, interpreted as a possible parasite cyst. Retroperitoneum was free. Kidneys and adrenal glands were normal (fig. 1).