Anemia, and Thrombocytopenia

High match TN POLYAGGLUTINATION SYNDROME; TNPS

Polyagglutination refers to red blood cells that agglutinate upon exposure to almost all human sera, but not to autologous serum or the sera of newborns. The condition becomes apparent during blood typing and cross-matching in the laboratory (summary by Beck, 2000).Tn polyagglutination syndrome is an acquired clonal disorder characterized by the polyagglutination of red blood cells by naturally occurring anti-Tn antibodies following exposure of the Tn antigen on the surface of erythrocytes. Only a subset of red cells express the antigen, which can also be expressed on platelets and leukocytes. This condition may occur in healthy individuals who manifest asymptomatic anemia, leukopenia, or thrombocytopenia; however, there is also an association between the Tn antigen and leukemia or myelodysplastic disorders. The Tn antigen is an incompletely glycosylated membrane glycoprotein with an exposed N-acetylgalactosamine residue. The Tn antigen results from inactivation of C1GALT1C1, which encodes a chaperone required for the correct functioning of T-synthetase (C1GALT1 ), an enzyme essential for the correct biosynthesis of O-glycans. Absence of active T-synthetase results in exposure of GalNAc residues, with a proportion of these residues becoming sialylated and forming a sialyl-Tn antigen (summary by Vainchenker et al., 1985 and Crew et al., 2008).

TN POLYAGGLUTINATION SYNDROME; TNPS Is also known as galactosyltransferase deficiency

• Anemia
• Thrombocytopenia
• Autoimmunity
• Leukemia
• Hemolytic anemia

SOURCES: MESH OMIM MENDELIAN

Low match VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0

Vitamin B12-unresponsive methylmalonic acidemia type mut0 is an inborn error of metabolism characterized by recurrent ketoacidotic comas or transient vomiting, dehydration, hypotonia and intellectual deficit, which does not respond to administration of vitamin B12.

VITAMIN B12-UNRESPONSIVE METHYLMALONIC ACIDEMIA TYPE MUT0 Is also known as complete deficiency of methylmalonyl-coa mutase|vitamin b12-unresponsive methylmalonic aciduria type mut0

• Intellectual disability
• Global developmental delay
• Growth delay
• Muscular hypotonia
• Anemia

SOURCES: ORPHANET MENDELIAN

Low match CHROMOSOME 5Q DELETION SYNDROME

The 5q- syndrome is a myelodysplastic syndrome characterized by a defect in erythroid differentiation. Patients have severe macrocytic anemia, normal or elevated platelet counts, normal or reduced neutrophil counts, erythroid hypoplasia in the bone marrow, and hypolobated micromegakaryocytes (Ebert et al., 2008).

CHROMOSOME 5Q DELETION SYNDROME Is also known as mar|macrocytic anemia, refractory, due to 5q deletion|5q- syndrome

• Neoplasm
• Anemia
• Thrombocytopenia
• Leukemia
• Neutropenia

SOURCES: ORPHANET MESH OMIM MENDELIAN

Low match BLOOD GROUP, SS; SS

Ss blood group antigens reside on the red-cell glycoprotein GYPB. The S and s antigens result from a polymorphism at amino acid 29 of GYPB, where S has met29 and s has thr29. The U antigen refers to a short extracellular sequence in GYPB located near the membrane. GYPB, glycophorin A (GYPA ), and glycophorin E (GYPE ) are closely linked on chromosome 4q31. Antigens of the MN blood group (OMIM ) reside on GYPA. The M and N antigens differ at amino acids 1 and 5 of GYPA, where M is ser-ser-thr-thr-gly, and N is leu-ser-thr-thr-glu. The N terminus of GYPB is essentially identical to that of GYPA except that it always expresses the N antigen, denoted 'N' or N-prime. Recombination and gene conversion between GYPA, GYPB, and GYPE lead to hybrid glycophorin molecules and generation of low-incidence antigens. Thus, the MN and Ss blood groups are together referred to as the MNSs blood group system (see {111300}). Recombination results in 3 glycophorin-null phenotypes: En(a-) cells lack GYPA due to recombination between GYPA and GYPB; GYPB-negative (S-s-U-) cells lack GYPB due to recombination in GYPB; and M(k) cells (M-N-S-s-U-) lack both GYPA and GYPB due to recombination between GYPA and GYPE. Individuals with glycophorin-null phenotypes have decreased sialic acid content and increased resistance to malarial infection (see {611162}). GYPA and GYPB are not essential for red-cell development or survival, and GYPA- and GYPB-null phenotypes are not associated with anemia or altered red-cell function (review by Cooling, 2015).

BLOOD GROUP, SS; SS Is also known as ss blood group

• Neoplasm
• Anemia

SOURCES: OMIM MENDELIAN

Low match THROMBOCYTOPENIA WITH CONGENITAL DYSERYTHROPOIETIC ANEMIA

Thrombocytopenia with congenital dyserythropoietic anemia (CDA; see this term) is a rare hematological disorder, seen almost exclusively in males, characterized by moderate to severe thrombocytopenia with hemorrhages with or without the presence of mild to severe anemia.

THROMBOCYTOPENIA WITH CONGENITAL DYSERYTHROPOIETIC ANEMIA Is also known as congenital dyserythropoietic anemia with thombocytopenia|x-linked congenital dyserythropoietic anemia with thrombocytopenia|xdat

• Cryptorchidism
• Anisocytosis
• Anemia of inadequate production
• Poikilocytosis
• Macrothrombocytopenia

SOURCES: ORPHANET MENDELIAN

Low match BLEEDING DISORDER, PLATELET-TYPE, 16; BDPLT16

BDPLT16 is an autosomal dominant form of congenital macrothrombocytopenia associated with platelet anisocytosis. It is a disorder of platelet production. Affected individuals may have no or only mildly increased bleeding tendency. In vitro studies show mild platelet functional abnormalities (summary by Kunishima et al., 2011 and Nurden et al., 2011).

BLEEDING DISORDER, PLATELET-TYPE, 16; BDPLT16 Is also known as thrombasthenia of glanzmann and naegeli, autosomal dominant|glanzmann thrombasthenia, autosomal dominant

• Anemia
• Thrombocytopenia
• Abnormal bleeding
• Purpura
• Petechiae

SOURCES: OMIM MESH MENDELIAN

Low match THROMBOCYTOPENIA, ANEMIA, AND MYELOFIBROSIS; THAMY

• Anemia
• Splenomegaly
• Thrombocytopenia
• Myeloproliferative disorder
• Giant platelets

SOURCES: OMIM MENDELIAN

Low match ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH B FACTOR ANOMALY

ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH B FACTOR ANOMALY Is also known as hemolytic-uremic syndrome without diarrhea with b factor anomaly|ahus, susceptibility to, 4|atypical hus with b factor anomaly|ahus with b factor anomaly|d-hus with b factor anomaly

• Hypertension
• Thrombocytopenia
• Proteinuria
• Hematuria
• Acute kidney injury

SOURCES: ORPHANET OMIM MENDELIAN

Low match ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH I FACTOR ANOMALY

ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH I FACTOR ANOMALY Is also known as atypical hus with i factor anomaly|d-hus with i factor anomaly|ahus, susceptibility to, 3|hemolytic-uremic syndrome without diarrhea with i factor anomaly|ahus with i factor anomaly

• Anemia
• Hypertension
• Thrombocytopenia
• Proteinuria
• Hemolytic anemia

SOURCES: OMIM ORPHANET MENDELIAN

Low match ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH THROMBOMODULIN ANOMALY

ATYPICAL HEMOLYTIC-UREMIC SYNDROME WITH THROMBOMODULIN ANOMALY Is also known as d-hus with thrombomodulin anomaly|ahus, susceptibility to, 6|atypical hus with thrombomodulin anomaly|ahus with thrombomodulin anomaly|hemolytic-uremic syndrome without diarrhea with thrombomodulin anomaly

• Anemia
• Hypertension
• Renal insufficiency
• Thrombocytopenia
• Proteinuria

SOURCES: ORPHANET OMIM MENDELIAN