Departments

About the department

Department name (English): Pediatric Hematology

Department name (original): Hematología Pediátrica SJD

Subnetworks of expertise:

• Bleeding - Coagulation disorders
• Red blood cell defects
• Bone marrow failure

Healthcare provider: Hospital de Sant Joan de Déu- Hospital de la Santa Creu i Sant Pau

Diseases covered by the department:

• Essential thrombocythemia
• Primary myelofibrosis
• Hereditary thrombocytopenia with early-onset myelofibrosis
• Gaisböck syndrome
• Rare coagulation disorder
• Rare thrombotic disease of hematologic origin
• Rare thrombotic disorder due to a coagulation factors defect
• Rare thrombotic disorder due to a constitutional coagulation factors defect
• Congenital factor XII deficiency
• Familial thrombomodulin anomalies
• Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
• Rare hereditary thrombophilia
• Hereditary thrombophilia due to congenital protein S deficiency
• Hereditary thrombophilia due to congenital protein C deficiency
• Hereditary thrombophilia due to congenital antithrombin deficiency
• Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
• Rare thrombotic disorder due to an acquired coagulation factors defect
• Catastrophic antiphospholipid syndrome
• Heparin-induced thrombocytopenia
• Protein S acquired deficiency
• Acquired purpura fulminans
• Simple cryoglobulinemia
• Rare thrombotic disorder due to a platelet anomaly
• Thrombotic thrombocytopenic purpura
• Congenital thrombotic thrombocytopenic purpura
• Acquired thrombotic thrombocytopenic purpura
• Rare thrombotic disorder due to a constitutional platelet anomaly
• Familial thrombocytosis
• Hereditary thrombocytosis with transverse limb defect
• Rare thrombotic disorder due to an acquired platelet anomaly
• Rare hemorrhagic disorder
• Rare hemorrhagic disorder due to a coagulation factors defect
• Rare hemorrhagic disorder due to a constitutional coagulation factors defect
• Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome
• Hemophilia
• Hemophilia A
• Severe hemophilia A
• Moderately severe hemophilia A
• Mild hemophilia A
• Symptomatic form of hemophilia A in female carriers
• Hemophilia B
• Severe hemophilia B
• Moderately severe hemophilia B
• Mild hemophilia B
• Symptomatic form of hemophilia B in female carriers
• Congenital factor V deficiency
• Congenital fibrinogen deficiency
• Familial afibrinogenemia
• Familial dysfibrinogenemia
• Familial hypofibrinogenemia
• Familial hypodysfibrinogenemia
• Congenital alpha2-antiplasmin deficiency
• Congenital factor XIII deficiency
• Von Willebrand disease
• Von Willebrand disease type 1
• Von Willebrand disease type 2
• Von Willebrand disease type 2A
• Von Willebrand disease type 2B
• Von Willebrand disease type 2M
• Von Willebrand disease type 2N
• Von Willebrand disease type 3
• Congenital factor XI deficiency
• Congenital plasminogen activator inhibitor type 1 deficiency
• Congenital high-molecular-weight kininogen deficiency
• Congenital prekallikrein deficiency
• Combined deficiency of factor V and factor VIII
• Congenital vitamin K-dependent coagulation factors deficiency
• Congenital factor VII deficiency
• Congenital factor II deficiency
• Congenital factor X deficiency
• Hereditary combined deficiency of vitamin K-dependent clotting factors
• Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
• East Texas bleeding disorder
• Thrombomodulin-related bleeding disorder
• Rare hemorrhagic disorder due to an acquired coagulation factor defect
• Acquired prothrombin deficiency
• Acquired hemophilia
• Acquired von Willebrand syndrome
• Rare hemorrhagic disorder due to a platelet anomaly
• Rare hemorrhagic disorder due to a constitutional platelet anomaly
• Rare hemorrhagic disorder due to a constitutional thrombocytopenia
• Syndromic constitutional thrombocytopenia
• Stormorken-Sjaastad-Langslet syndrome
• Thrombocytopenia-absent radius syndrome
• Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
• MYH9-related disease
• GNE myopathy
• Jacobsen syndrome
• Macrothrombocytopenia with mitral valve insufficiency
• Alpha delta granule deficiency
• Dense granule disease
• Wiskott-Aldrich syndrome
• Chédiak-Higashi syndrome
• Hereditary thrombocytopenia with normal platelets-hematological cancer predisposition syndrome
• Hermansky-Pudlak syndrome
• Hermansky-Pudlak syndrome with neutropenia
• Hermansky-Pudlak syndrome with pulmonary fibrosis
• Hermansky-Pudlak syndrome without pulmonary fibrosis
• Hermansky-Pudlak syndrome type 7
• Hermansky-Pudlak syndrome type 8
• Hermansky-Pudlak syndrome type 9
• Isolated constitutional thrombocytopenia
• Isolated hereditary giant platelet disorder
• Severe autosomal recessive macrothrombocytopenia
• Bernard-Soulier syndrome
• Thrombocytopenia with congenital dyserythropoietic anemia
• Autosomal dominant macrothrombocytopenia
• Alpha granule disease
• Gray platelet syndrome
• Quebec platelet disorder
• Medich giant platelet syndrome
• White platelet syndrome
• Paris-Trousseau thrombocytopenia
• X-linked dyserythropoetic anemia with abnormal platelets and neutropenia
• Hereditary thrombocytopenia with normal platelets
• X-linked thrombocytopenia with normal platelets
• Autosomal thrombocytopenia with normal platelets
• Congenital amegakaryocytic thrombocytopenia
• Bleeding diathesis due to thromboxane synthesis deficiency
• Isolated delta-storage pool disease
• Autosomal dominant thrombocytopenia with platelet secretion defect
• Rare hemorrhagic disorder due to a qualitative platelet defect
• Glanzmann thrombasthenia
• Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
• Ehlers-Danlos syndrome, fibronectinemic type
• Scott syndrome
• P2Y12 defect
• Pseudo-von Willebrand disease
• Bleeding diathesis due to a collagen receptor defect
• Bleeding diathesis due to glycoprotein VI deficiency
• Bleeding diathesis due to integrin alpha2-beta1 deficiency
• Bleeding disorder due to CalDAG-GEFI deficiency
• Rare hemorrhagic disorder due to an acquired platelet anomaly
• Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome
• TAFRO syndrome
• Fetal and neonatal alloimmune thrombocytopenia
• Autoimmune thrombocytopenia
• Immune thrombocytopenic purpura
• Evans syndrome
• STAT3-related early-onset multisystem autoimmune disease
• Kasabach-Merritt syndrome
• Rare anemia
• Thiamine-responsive megaloblastic anemia syndrome
• Hemoglobinopathy
• Hemoglobin E disease
• Hemoglobin D disease
• Unstable hemoglobin disease
• Alpha-thalassemia and related diseases
• Alpha-thalassemia
• Hemoglobin H disease
• Hb Bart's hydrops fetalis
• Alpha-thalassemia-related diseases
• Alpha-thalassemia-X-linked intellectual disability syndrome
• Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
• Alpha-thalassemia-myelodysplastic syndrome
• Beta-thalassemia and related diseases
• Beta-thalassemia
• Beta-thalassemia major
• Beta-thalassemia intermedia
• Dominant beta-thalassemia
• Beta-thalassemia associated with another hemoglobin anomaly
• Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
• Delta-beta-thalassemia
• Hemoglobin C-beta-thalassemia syndrome
• Hemoglobin E-beta-thalassemia syndrome
• Hemoglobin Lepore-beta-thalassemia syndrome
• Beta-thalassemia with other manifestations
• Beta-thalassemia-X-linked thrombocytopenia syndrome
• Sickle cell disease and related diseases
• Sickle cell anemia
• Sickle cell disease associated with an other hemoglobin anomaly
• Sickle cell-beta-thalassemia disease syndrome
• Sickle cell-hemoglobin C disease syndrome
• Sickle cell-hemoglobin D disease syndrome
• Sickle cell-hemoglobin E disease syndrome
• Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
• Hemoglobinopathy Toms River
• Hereditary methemoglobinemia
• Hemoglobin C disease
• Hemoglobin M disease
• Acquired methemoglobinemia
• Rare hemolytic anemia
• Rare constitutional hemolytic anemia
• Atypical hemolytic-uremic syndrome
• Atypical hemolytic-uremic syndrome with DGKE deficiency
• Atypical hemolytic-uremic syndrome with C3 anomaly
• Atypical hemolytic-uremic syndrome with MCP/CD46 anomaly
• Atypical hemolytic-uremic syndrome with B factor anomaly
• Atypical hemolytic-uremic syndrome with H factor anomaly
• Atypical hemolytic-uremic syndrome with I factor anomaly
• Atypical hemolytic-uremic syndrome with anti-factor H antibodies
• Atypical hemolytic-uremic syndrome with thrombomodulin anomaly
• Rare constitutional hemolytic anemia due to a red cell membrane anomaly
• Hereditary spherocytosis
• Hereditary elliptocytosis
• Distal renal tubular acidosis with anemia
• Hereditary stomatocytosis
• Overhydrated hereditary stomatocytosis
• Dehydrated hereditary stomatocytosis
• Rh deficiency syndrome
• Familial pseudohyperkalemia
• Southeast Asian ovalocytosis
• Hereditary cryohydrocytosis with reduced stomatin
• Hereditary cryohydrocytosis with normal stomatin
• Constitutional hemolytic anemia due to acanthocytosis
• Abetalipoproteinemia
• McLeod neuroacanthocytosis syndrome
• Primary CD59 deficiency
• Rare constitutional hemolytic anemia due to an enzyme disorder
• Congenital erythropoietic porphyria
• Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies
• Glutathione synthetase deficiency
• Glutathione synthetase deficiency with 5-oxoprolinuria
• Glutathione synthetase deficiency without 5-oxoprolinuria
• Gamma-glutamylcysteine synthetase deficiency
• Hemolytic anemia due to glutathione reductase deficiency
• 6-phosphogluconate dehydrogenase deficiency
• Hemolytic anemia due to a disorder of glycolytic enzymes
• Glycogen storage disease due to muscle phosphofructokinase deficiency
• Triose phosphate-isomerase deficiency
• Glycogen storage disease due to aldolase A deficiency
• Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
• Hemolytic anemia due to red cell pyruvate kinase deficiency
• Hemolytic anemia due to glucophosphate isomerase deficiency
• Hemolytic anemia due to diphosphoglycerate mutase deficiency
• Non-spherocytic hemolytic anemia due to hexokinase deficiency
• Hemolytic anemia due to glyceraldehyde-3-phosphate dehydrogenase deficiency
• Class I glucose-6-phosphate dehydrogenase deficiency
• Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder
• Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
• Hemolytic anemia due to adenylate kinase deficiency
• Hemolytic anemia due to erythrocyte adenosine deaminase overproduction
• Heinz body anemia
• Rare acquired hemolytic anemia
• Paroxysmal nocturnal hemoglobinuria
• Typical hemolytic-uremic syndrome
• Aplastic anemia
• Rare constitutional aplastic anemia
• Blackfan-Diamond anemia
• Dyskeratosis congenita
• Fanconi anemia
• Revesz syndrome
• Hoyeraal-Hreidarsson syndrome
• WT limb-blood syndrome
• Shwachman-Diamond syndrome
• Autosomal dominant aplasia and myelodysplasia
• Hereditary isolated aplastic anemia
• Pancytopenia-developmental delay syndrome
• Rare acquired aplastic anemia
• Idiopathic aplastic anemia
• Red cell aplasia
• Transient erythroblastopenia of childhood
• Adult pure red cell aplasia
• Monocytopenia with susceptibility to infections
• Rare deficiency anemia
• Constitutional deficiency anemia
• Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder
• Methylmalonic acidemia with homocystinuria
• Methylmalonic acidemia with homocystinuria, type cblC
• Methylmalonic acidemia with homocystinuria, type cblD
• Methylmalonic acidemia with homocystinuria type cblF
• Methylmalonic acidemia with homocystinuria, type cblJ
• Methylmalonic acidemia with homocystinuria, type cblX
• Transcobalamin deficiency
• Congenital intrinsic factor deficiency
• Homocystinuria without methylmalonic aciduria
• Methylcobalamin deficiency type cblE
• Methylcobalamin deficiency type cblG
• Methylcobalamin deficiency type cblDv1
• Gräsbeck-Imerslund disease
• Constitutional megaloblastic anemia due to folate metabolism disorder
• Formiminoglutamic aciduria
• Hereditary folate malabsorption
• Constitutional megaloblastic anemia with severe neurologic disease
• Vitamin B12- and folate-independent constitutional megaloblastic anemia
• Hereditary orotic aciduria
• Hypoxanthine-guanine phosphoribosyltransferase deficiency
• Lesch-Nyhan syndrome
• Hypoxanthine guanine phosphoribosyltransferase partial deficiency
• Constitutional dyserythropoietic anemia
• Congenital dyserythropoietic anemia
• Congenital dyserythropoietic anemia type I
• Congenital dyserythropoietic anemia type III
• Congenital dyserythropoietic anemia type II
• Congenital dyserythropoietic anemia type IV
• Majeed syndrome
• Pancreatic insufficiency-anemia-hyperostosis syndrome

Service offered

• Prevention and genetic counseling
• Diagnostics
• Treatment and care

Patients covered

• Pediatrics

Department phone number: 00932804000

Description:
Pediatric hematology department aimed to the diagnosis and treatment of non-oncological hematologic diseases in children and adolescents.