Clinic Analysis And Literature Review Of 9 Cases With Diamond Blackfan Anemia

Objective: To investigate the etiology,pathogenesis,age of onset, clinical manifestation and therapy of Diamond Blackfan anemia(DBA),provide clinical foundation for early diagnosis and treatment of DBA.Methods: Retrospective analysis 9 cases of DBA from 2002.01.01 to 2008.10.31 in our hospital, summarize the age of onset,clinical manifestation, congenital anomalies,results of blood and bone marrow cytomorphologic examination,treatment and curative effect.Summarize the etiology and pathogenesis by reviewing literature.Results:⑴9 cases all falled ill in there first 12 months after born.The youngest was 1 month,the oldest was 12 months,5 cases falled ill within 3 months after born which account 55.6%.⑵Three cases went to doctors'office visiting within 3 months after they falled ill,5 cases between 3 months to 12 months,1 case after 12 months.⑶9 patients were 7 males and 2 females,the male-female sex ratio was 3.5:1.⑷There were 5 patients combining with congenital anomalies accounting 55.6%.Malformation of the head,face and upper limb account 85.7%.There were 2 cases combining with 2 kinds of malformation among the total.⑸5 cases had delayed growth and development accouting 55.6%.⑹1 case has positive familial history because his brother had the same manifestation and died at 18 months.⑺All of the 9 cases had progressive anemia without hepatauxe or lymphadenovarix..5 cases had the ultrasound test and 4 cases had mild splenauxe (﹤3cm).⑻All of the 9 cases had no tumor.⑼At the onset of the disease,the hemoglobin level were amone 38.5±10.5g/L,1 case was extremely severe anemia and 8 cases were severe anemia. 7 cases had normocytic anemia and 2 had macrocytic anemia The reticulocyte counts were all significant decrease,5 cases were 0,the other 4 were less than 0.003. All of the 9 cases had normal leucocyte and platelet counts.⑽Normocellular bone marrow with erythroid hypoplasia, the erythrocytoblast were below 5% except 1 case was 7%.⑾8 cases had iron metabolism and hemoglobin electrophoresis test.All of the 8 cases had higher serum iron and serum iron saturation, 4 cases had lower total iron binding capacity and fetal hemaglobin were all normal.⑿Except 2 cases gave up, the other 7 cases all received adrenal cortical hormone therapy at diagnosis.5 cases whose hemoglobin level were higher than 40g/L were given prednisone 2.0 mg/(kg·d) divied orally ,the other 2 cases whose hemoglobin level were less than 40g/L were given dexamethasone 1.0-1.5mg/(kg·d) for 6 days intravenously guttae then changed to prednisone just as above mentioned.This dosage last at least 1 month and the hemoglobin rised to above 100g/L, then decreased slowly to 1.0mg/(kg·d) for 2 or 3 months if the hemoglobin stabilized at 90g/L～100g/L then continued to decrease slowly till drug discountinuance.⑿There were 4 cases in our follow-up.2 cases who had been treated for more than 2 years and 4 months respectively ,the hemoglobin level stabilized at about 110g/L.1 case had been threated for more than 2 years irregularly and the hemoglobin level was at 60g/L-70g/L.The other 1 case ceased prednisone by himself after treated for 10 days, he maintained his hemoglobin level at 20g/L-40g/L by blood transfusion interruptable.Conclusion: 1. The etiology and pathogenesis of DBA is not clear cut .At present it is presumed that multifactor paticipate it in common.⑴Heredity and genetic mutation such as RPS19, RPS24 and RPS17 mutation reduce synthesis and functional defect of ribosome then dyserythropoiesis.⑵There is abnormal signal transduction after erythropoietin combined with erythropoietin receptor.⑶The generation of anemia maybe combine with c-kit ligand deficiency.⑷The number of erythroid progenitor cells is normal but their differentation is abnormal.⑸Now it is confirmed that DBA has no relation with immunosuppression that T lymphocyte mediated. 2. This study showed that⑴55.6% developed during the first 3 months of life matched with literature.⑵The male-female sex ratio was 3.5:1 higher than the statistics at abroad (1.1:1).⑶Congenital anomalies were present in 55.6% of the patients and higher than statistics at abroad (30%)⑷DBA can combine with more than one congenital anomalies and the majority was head,face and upper limbs abnormalities accounting for 85.7%.⑸55.6% had delayed growth and development.⑹The majority was sporadic but some had positive family history.In our study, 1 case had positive family history accounting for 11.1% which matched with statistics at abroad 10%-25%.⑺The majority of patients were severe anemia and were either normocytic anemia or macrocytic anemia. 80% of patients had mild splenauxe but had no hepatauxe or lymphadenovarix.⑻DBA had an increased risk of developing tumor,but no one had tumor in our study.⑼Our study showed that DBA had a high serum iron and serum iron saturation,50% of the patient had a low total iron binding capacity,which agreed with literature reported at abrord.All of the patients had normal fetal hemaglobin which didn't agree with literature reported at abrord.⑽Normocellular bone marrow with erythroid hypoplasia, the erythrocytoblast was below 5% in majority of patients.⑾Adrenal cortex hormone was good for treating DBA.The reticulocyte will advance after 1 week and hemoglobin advance after 2 weeks if the patient was sensitive to adrenal cortex hormone.Doctors' office visiting time determined if the patient was sensitive to adrenal cortex hormone .The earlier the better treatment effectiveness.Almost 100% of patients with DBA had effect if he was treated within one year's course of disease.⑿100% of patients who received adrenal cortex hormone therapy achived remission higher than 70% reported at abroad.,it concerned with our patients was diagnosed early.⒀It was reported that someone with DBA got spontaneous remission but there was no one got spontaneous remission in our study.⒁Early diagnosis and early adrenal cortex hormone therapy were the key points to improve the prognosis.