Diamond Blackfan Anaemia with Hypothyroidism and CNS Malformations.

Diamond Black fan Anemia (DBA) is a congenital erythroid aplasia that usually presents in infancy. The DBA patients have low red blood cell count (Anaemia). The rest of their blood cells (Platelets & WBCs) are normal. We present a 14 month old male child who presented with severe anaemia. The patient was transfusion dependent since 4 months of age. Clinical examination revealed delayed mile stones and a couple of congenital deformities. Haematological parameters showed elevated foetal haemoglobin level (Hb F – 11.8% ) and elevated serum TSH (thyroid stimulating hormone) level. Peripheral blood picture showed gross microcytic hypochromic red blood cells and absence of reticulocytes with normal levels of leucocytes and platelets. A bone marrow showed gross suppression of Erythroid series with M:E ratio of 30:1. Some large pronormoblasts were found. Family history was not significant. Compiling the clinical features, haematological parameters, PS and bone marrow findings, a diagnosis of DBA was given.

Diamond-Blackfan Anemia Confirmed by RPS19 Gene Mutation Analysis: A Case Study and Literature Review of Korean Patients / 대한진단검사의학회지

Diamond-Blackfan anemia (DBA) is a rare congenital erythroid hypoplastic anemia that usually presents early in infancy and is inherited in up to 45% of cases. It is characterized by red cell aplasia, congenital anomalies, and a predisposition to cancer. Corticosteroids and red blood cell transfusions are the mainstays of therapy. We describe a case of 3-month-old infant who presented with severe anemia, elevated levels of HbF and adenosine deaminase and bilateral hydronephrosis, who was later confirmed as DBA by mutation analysis using the direct sequencing method. Direct sequencing analysis of RPS19 gene was performed with both cDNA and genomic DNA extracted from peripheral blood and a c.3G>A point mutation of exon 2 resulting in p.Met1Ile was identified in this patient. The patient showed an inadequate response to steroid therapy and a partial response to RBC transfusion with a follow-up Hb level of 8.3 g/dL on her last visit to the outpatient clinic. DBA is a genetically and phenotypically heterogeneous disease, and we have reviewed the clinical characteristics of 25 Korean patients thus far reported in the literature. To our knowledge, this is the first case of DBA confirmed by mutation analysis in Korea, and mutation identification using molecular method is recommended for confirmation of this genetically and phenotypically heterogeneous disease.

Nomimmune hydrops fetalis due to Diamond-Blackfan anemia.

We describe case report of a baby with Diamond-Blackfan anemia, who presented as non-immune hydrops fetalis. The diagnosis was confirmed by measurement of red cell adenosine deaminase activity which is increased in Diamond-Blackfan anemia. At 2 years of age he is dependent on small dose of alternate day steroid to maintain his hemoglobin.

Diamond-Blackfan anemia: report of 6 cases.

Diamond-Blackfan anemia is a rare congenital hypoplastic anemia. We report 6 children diagnosed as Diamond-Blackfan anemia at our clinic. All had severe pallor at presentation, with mild hepatomegaly and just palpable spleen in one child. Thumb anomaly was present in one of them. All of them had macrocytic or normocytic anemia with reticulocytopenia, and bone marrow examination revealed marked erythroid hypoplasia. All of them were treated with oral steroids with a good response.