A Cas Report of Diamond-Blackfan Anaemia with RPS19 Mutation

Diamond Blackfan Anaemia (DBA) is a rare disorder which presents with anaemia in early childhood. This heterogenous disorder is mainly autosomal dominantly inherited. Significantproportions of the cases are associated with craniofacial anomalies and some cases may end up developing malignancy. The diagnosis is established by blood investigations, and bone marrow studies in which red cell precursors are reduced or absent. Screening for the mutations including those encoding for ribosomal proteins in the patient and the family members is confirmatory for diagnosis. Human Leukocyte Antigen (HLA) matched hemopoietic stem cell transplantation is the definitive treatment of choice. In other cases, corticosteroids have been tried. The haemoglobin level is maintained with packed red cell transfusion. We are presenting here a male baby who had anaemia soon after birth and was brought to us at the age of 1 year 3 months. The diagnosis of DBA was made since the patient presented with anaemia and supportive biochemical and histological evidence. Genetic screening revealed mutation in ribosomal protein S19 (RPS19) gene in the baby.

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Dual Functions of the C5a Receptor as a Connector for the K562 Erythroblast-Like Cell-THP-1 Macrophage-Like Cell Island and as a Sensor for the Differentiation of the K562 Erythroblast-Like Cell during Haemin-Induced Erythropoiesis

Clinical and Developmental Immunology ◽

10.1155/2012/187080 ◽

2012 ◽

Vol 2012 ◽

pp. 1-12 ◽

Cited By ~ 4

Author(s):

Hiroshi Nishiura ◽

Rui Zhao ◽

Tetsuro Yamamoto

Keyword(s):

Apoptotic Cell ◽

Human Leukocyte ◽

K562 Cells ◽

Culture Conditions ◽

Wild Type ◽

C5a Receptor ◽

Leukocyte Antigen ◽

Monocyte Chemotaxis ◽

Diamond Blackfan Anaemia ◽

Dual Functions

The transcriptional nuclear factor binding to the Y box of human leukocyte antigen genes (NF-Y) for theC5a receptor(C5aR) gene is active in erythroblasts. However, the roles of theC5aRin erythropoiesis are unclear. We have previously demonstrated that apoptotic cell-derived ribosomal proteinS19(RP S19) oligomers exhibit extraribosomal functions in promoting monocyte chemotaxis and proapoptosis via theC5aRwithout receptor internalisation. In contrast to the extraribosomal functions of theRP S19, a proapoptotic signal in pro-EBs, which is caused by mutations in theRP S19gene, is associated with the inherited erythroblastopenia, Diamond-Blackfan anaemia. In this study, we detectedC5aRexpression andRP S19oligomer generation in human erythroleukemia K562 cells during haemin-induced erythropoiesis. Under monocell culture conditions, the differentiation into K562 erythrocyte-like cells was enhanced following the overexpression of Wild-typeRP S19. Conversely, the differentiation was repressed following the overexpression of mutantRP S19. AnRP S19oligomer inhibitor and aC5aRinhibitor blocked the association of the K562 basophilic EB-like cells and the THP-1 macrophage-like cells under coculture conditions. When bound toRP S19oligomers, theC5aRmay exhibit dual functions as a connector for the EB-macrophage island and as a sensor for EB differentiation in the bone marrow.

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Pure red cell aplasia of long duration complicating major ABO- incompatible bone marrow transplantation [see comments]

Blood ◽

10.1182/blood.v75.1.290.290 ◽

1990 ◽

Vol 75 (1) ◽

pp. 290-295 ◽

Cited By ~ 97

Author(s):

JP Gmur ◽

J Burger ◽

A Schaffner ◽

K Neftel ◽

O Oelz ◽

...

Keyword(s):

Bone Marrow ◽

Human Leukocyte ◽

Pure Red Cell Aplasia ◽

Marrow Transplant ◽

Red Cell ◽

Antibody Synthesis ◽

Leukocyte Antigen ◽

Red Cell Aplasia ◽

Long Duration ◽

Very High

Abstract In 3 of 15 consecutive patients receiving a human leukocyte antigen (HLA)-identical but major ABO incompatible bone marrow transplant (BMT), pure red cell aplasia (PRA) lasting 5 to 8 months was observed. Titers of the incompatible anti-A agglutinin before infusion of the red blood cell (RBC)-depleted BMT was very high in one, and in the usual range in two patients. Decrease of agglutinin titers during the first 4 weeks after BMT were comparable between PRA patients and those of ABO- incompatible BMT recipients with timely RBC recovery. However, in PRA patients, agglutinin titers rose again and remained elevated for 19 to 28 weeks. RBC engraftment and reticulocyte recovery ultimately occurred spontaneously and coincided with the decrease of agglutinin titers below 16. These observations indicate that PRA is antibody-dependent in this setting. Furthermore, it is conceivable that cyclosporine facilitates recipient-derived antibody synthesis after major ABO- incompatible BMT.

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Red cell and human leukocyte antigen alloimmunization in candidates for renal transplantation: a reality

Revista Brasileira de Hematologia e Hemoterapia ◽

10.5581/1516-8484.20130046 ◽

2013 ◽

Author(s):

Mariza Aparecida Mota

Keyword(s):

Renal Transplantation ◽

Human Leukocyte Antigen ◽

Human Leukocyte ◽

Red Cell ◽

Leukocyte Antigen

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Pure red cell aplasia of long duration complicating major ABO- incompatible bone marrow transplantation [see comments]

Blood ◽

10.1182/blood.v75.1.290.bloodjournal751290 ◽

1990 ◽

Vol 75 (1) ◽

pp. 290-295 ◽

Cited By ~ 1

Author(s):

JP Gmur ◽

J Burger ◽

A Schaffner ◽

K Neftel ◽

O Oelz ◽

...

Keyword(s):

Bone Marrow ◽

Human Leukocyte ◽

Pure Red Cell Aplasia ◽

Marrow Transplant ◽

Red Cell ◽

Antibody Synthesis ◽

Leukocyte Antigen ◽

Red Cell Aplasia ◽

Long Duration ◽

Very High

In 3 of 15 consecutive patients receiving a human leukocyte antigen (HLA)-identical but major ABO incompatible bone marrow transplant (BMT), pure red cell aplasia (PRA) lasting 5 to 8 months was observed. Titers of the incompatible anti-A agglutinin before infusion of the red blood cell (RBC)-depleted BMT was very high in one, and in the usual range in two patients. Decrease of agglutinin titers during the first 4 weeks after BMT were comparable between PRA patients and those of ABO- incompatible BMT recipients with timely RBC recovery. However, in PRA patients, agglutinin titers rose again and remained elevated for 19 to 28 weeks. RBC engraftment and reticulocyte recovery ultimately occurred spontaneously and coincided with the decrease of agglutinin titers below 16. These observations indicate that PRA is antibody-dependent in this setting. Furthermore, it is conceivable that cyclosporine facilitates recipient-derived antibody synthesis after major ABO- incompatible BMT.

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