Members

Name: Patricia

Surname: Aguilar-Martinez

Academic title: Professor, Doctor

Charge: Head, Department of Haematology Biology, Coordinator Reference Centre on rare red cell disorders, Coordinator expert center on rare iron disorders

Which is your area of expertise for the "Disease/group of diseases"?

• Prevention and genetic counseling
• Diagnostics
• Treatment and care

Specify your expertise for the "Disease/group of diseases" (eg SCT, Molecular diagnosis):

genetic counselling, molecular diagnosis

Diseases:

Evans syndrome STAT3-related early-onset multisystem autoimmune disease Rare anemia Sideroblastic anemia Constitutional sideroblastic anemia Pearson syndrome Mitochondrial myopathy and sideroblastic anemia X-linked sideroblastic anemia and ataxia Thiamine-responsive megaloblastic anemia syndrome X-linked sideroblastic anemia Adult-onset autosomal recessive sideroblastic anemia Autosomal recessive sideroblastic anemia Severe congenital hypochromic anemia with ringed sideroblasts Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome Rare hemolytic anemia Rare constitutional hemolytic anemia Lethal hemolytic anemia-genital anomalies syndrome 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 Familial LCAT deficiency Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome 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 Autoimmune hemolytic anemia Autoimmune hemolytic anemia, cold type Cold agglutinin disease Paroxysmal cold hemoglobinuria Autoimmune hemolytic anemia, warm type Mixed-type autoimmune hemolytic anemia Drug-induced autoimmune hemolytic anemia Hemolytic disease due to fetomaternal alloimmunization Hemolytic disease of the newborn with Kell alloimmunization Rare deficiency anemia Constitutional deficiency anemia Constitutional anemia due to iron metabolism disorder Congenital atransferrinemia Aceruloplasminemia Microcytic anemia with liver iron overload IRIDA syndrome 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 Rare hereditary hemochromatosis HFE related hereditary hemochromatosis (Symptomatic form of hemochromatosis type 1) - OMIM 235200 Hemochromatosis due to rare mutations in HFE (OMIM 235200) Non-HFE related hereditary hemochromatosis Hemochromatosis type 2(OMIM 602390, 613313) HJV related hereditary hemochromatosis - OMIM 602390 (Hemochromatosis type 2A) HAMP related hereditary hemochromatosis - OMIM 613313 (Hemochromatosis type 2B) TFR2 related hereditary hemochromatosis OMIM 604250 (Hemochromatosis type 3) FTH related hereditary hemochromatosis - OMIM 615517 (Hemochromatosis type 5) Ferroportin Disease (Hemochromatosis type 4B)​

Which is your patient age coverage?

• Adults

Member Representative

Scientific and Strategic Board member

TFA coordinator

Subnetwork representative:

• Bleeding - Coagulation disorders
• Haemochromatosis and other iron disorders