The patient is female, 27 years old, with her mother, aunt, and brother and cousin history of HS. She was sent to our hospital in April 2005, for "yellowish discoloration of the sclera and the skin for 3 years, aggravated for 2 months". Physical examination shows "mild yellowish discoloration of the sclera and the skin, soft abdomen, liver not palpable, spleen is palpable 3cm below the left costal margin. Auxiliary examinations: blood routine test: white blood cell count (WBC) 8.2*10E9/L, red blood cell count (RBC) 2.84*10E12/L, hemoglobin (Hb) 92g/L, mean corpuscular hemoglobin concentration (MCHC) 382g/L, platelet count (PLT) 327*10E9/L, proportion of reticulocyte 10.1%; blood smear shows the proportion of spherocytes is 18%; Erythrocyte osmotic fragility test: hemolysis begins at 0.56% salt solution (normal control at 0.42%), complete hemolysis at 0.41% salt solution (normal control at 0.22%); liver function tests: total bilirubin (TB) 163.3umol/L, indirect bilirubin (IB) 154.4umol/L, Lactate dehydrogenase (LDH) 402U/L. computed tomography of the abdomen shows splenomegaly (7 rib units); bone marrow routine test shows significantly active bone marrow proliferation (Figure 1), erythroid proliferation is active, spherocytes are commonly seen, counts for 15%, folic acid, vitamin B12, ferritin, glucose phosphate isomerase, glucose-6-phosphate dehydrogenase test and pyruvate kinase tests were normal, Coomb's test shows negative result; normal hemoglobin electrophoresis; expression of CD55 and CD59 on erythrocytes and granulocytes are not significantly below normal range. The clinical diagnosis is: HS. She was given partial embolization of the splenic artery, after which yellowish discoloration of the skin and sclera faded, hemoglobin and bilirubin level returned to normal and splenomegly relieved.
Yellowish discoloration of the skin and sclera occurred again in September 200 7. Auxiliary examination shows: WBC 12.4*10E9/L, RBC 3.17*10E12/L, H 108g/L, PLT 425*10E9/L, proportion of reticulocyte 12%; liver function tests: TB 122.3umol/L, IB 108umol/L; upper abdomen CT shows splenomegly (7 rib units) and splenic embolization postoperative change; bone marrow test gives the same result as the previous one. She received a second partial splenic artery embolization. After the procedure, yellowish discoloration of the skin and sclera faded, hemoglobin and bilirubin level returned to normal and splenomegly relieved again.
Her blood routine test in February 2008 shows a result of WBC 69.2*10E9/L the proportion of neutrophils is 74% RBC 3.93*10E12/L Hb 124g/L PLT 575*10E9/L proportion of late promyelocyte is 10%, the proportion of reticulocytes is 11% Physical examination shows her skin and sclera are mildly yellowish discolored, spleen is enlarged and being palpable 8cm below the left costal margin. Bone marrow test shows extremely active proliferation, Myeloid: erythroid ratio is 8:1, all stages of myeloid cells are increased, especially late promyelocytes, eosinophils and basophils are commonly seen, neutrophil alkaline phosphatase positive rate is 1%, score 2. Chromosome: 46, XX, t(9; 22)(q34; q11) (Figure 2); bone marrow gene test: M-bcr-abl/abl 92%, m-bcr-abl/abl(-). She was diagnosed of CML (chronic phase), and was given imatinib therapy for 1 month before recheck her blood routine test: WBC 7.4*10E9/L, RBC 3.8*10E12/L, Hb 121g/L, PLT 344*10E9/L. She didn't re-examine chromosome and fusion gene.
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Informed consent: Informed consent has been obtained from all individuals included in this study.