| HPO |
HP:0005498 |
Midline skin dimples over anterior/posterior fontanelles |
— |
— |
HP:0000236 |
| HPO |
HP:0005502 |
Increased red cell osmotic fragility |
— |
— |
HP:0020054 |
| HPO |
HP:0005505 |
Refractory anemia |
— |
— |
HP:0001903 |
| HPO |
HP:0005506 |
Chronic myelogenous leukemia |
"A myeloproliferative disorder characterized by increased proliferation of the granulocytic cell line without the loss of their capacity to differentiate." [HPO:probinson] |
— |
HP:0005558 |
| HPO |
HP:0005507 |
Hemoglobin Barts |
"Normal adult hemoglobin is composed of two chains each of alpha and beta globin. Hb Barts (Hemoglobin Barts) is a tetramer with four gamma globin chains, and is essentially pathognomonic for one or another form of alpha thalassemia. Hb Barts has an extremely high affinity for oxygen, resulting in almost no oxygen delivery to the tissues." [HPO:probinson] |
Hb Bart is normally not present in adult blood. It makes up about 85-90 percent of hemoglobin in Hb Bart hydrops fetalis syndrome, and about 2-5 percent in HbH disease. |
HP:0011902 |
| HPO |
HP:0005508 |
Monoclonal immunoglobulin M proteinemia |
"Presence of a monoclonal immunoglobulin M protein in the serum." [HPO:probinson, PMID:25815903] |
This is a characteristic feature of Waldenstrom macroglobulinemia (WM), which is defined as a B-cell lymphoplasmacytic lymphoma, characterized by monoclonal immunoglobulin M protein in the serum and infiltration of bone marrow with lymphoplasmacytic cells. |
HP:0003496, HP:0005523, HP:0031047 |
| HPO |
HP:0005510 |
Transient erythroblastopenia |
"A transient reduction in the number of erythroblasts in the circulation." [HPO:probinson] |
An erythroblast, the immediate precursor of a normal erythrocyte which, still retains a cell nucleus. |
HP:0001903 |
| HPO |
HP:0005511 |
Heinz body anemia |
"Anemia characterized by abnormal intracellular inclusions, composed of denatured hemoglobin, found on the membrane of red blood cells." [HPO:probinson] |
— |
HP:0001878 |
| HPO |
HP:0005512 |
Impaired neutrophil killing of staphylococci |
"A reduction in the ability of neutrophils to kill the gram-positive bacteria, staphylococcus, which is commonly known as staph." [https://en.wikipedia.org/wiki/Staphylococcus_aureus] |
— |
HP:0011993 |
| HPO |
HP:0005513 |
Increased megakaryocyte count |
"Increased megakaryocyte number, i.e., of platelet precursor cells, present in the bone marrow." [HPO:probinson] |
— |
HP:0012143 |
| HPO |
HP:0005517 |
T-cell lymphoma/leukemia |
"A type of T-cell lymphoma in which cancerous T-cells may present in the blood (leukemia), lymph nodes (lymphoma), skin or in multiple areas." [HPO:probinson] |
T-cell lymphoma/leukemia is linked to infection by the human T-cell lymphotropic virus 1 (HTLV-1). |
HP:0012190 |
| HPO |
HP:0005518 |
Increased mean corpuscular volume |
"Larger than normal size of erythrocytes." [HPO:probinson] |
Macrocytosis refers to a mean cell volume (MCV) greater than 100 fL. If macrocytosis is an isolated abnormality, the amount of hemoglobin in the cell increases proportionately, so the mean cell hemoglobin concentration (MCHC) remains within normal limits. |
HP:0025065 |
| HPO |
HP:0005520 |
Chronic disseminated intravascular coagulation |
"A chronic form of disseminated intravascular coagulation in which a persistent weak or intermittent activating stimulus is present and destruction and production of coagulation factors and platelets are balanced." [HPO:probinson] |
— |
HP:0005521 |
| HPO |
HP:0005521 |
Disseminated intravascular coagulation |
"Disseminated intravascular coagulation is characterized by the widespread activation of coagulation, which results in the intravascular formation of fibrin and ultimately thrombotic occlusion of small and midsize vessels." [HPO:probinson, PMID:10451465, PMID:11816725] |
DIC is a complex syndrome in which there is pathological generation of thrombin and diffuse intravascular clot formation. DIC may occur as acute decompensated or chronic compensated form. In acute decompensated DIC, there is a sudden massive exposure of tissue factor over a brief time period; Intravascular coagulation can also compromise the blood supply to organs and, in conjunction with hemodynamic and metabolic derangements, may contribute to the failure of multiple organs. At the same time, the use and subsequent depletion of platelets and coagulation proteins resulting from the ongoing coagulation may induce severe bleeding. Chronic DIC, also known as compensated DIC, results from a persistent weak or intermittent activating stimulus. Under such conditions, destruction and production of coagulation factors and platelets are balanced. |
HP:0001977 |
| HPO |
HP:0005522 |
Pyridoxine-responsive sideroblastic anemia |
"A type of sideroblastic anemia that is alleviated by pyridoxine (vitamin B-6) treatment." [HPO:probinson] |
— |
HP:0001924 |
| HPO |
HP:0005523 |
Lymphoproliferative disorder |
— |
— |
HP:0004377 |
| HPO |
HP:0005524 |
Macrocytic hemolytic disease |
— |
— |
HP:0001878 |
| HPO |
HP:0005525 |
Spontaneous hemolytic crises |
— |
— |
HP:0001878 |
| HPO |
HP:0005526 |
Lymphoid leukemia |
"A malignant lymphocytic neoplasm of B-cell or T-cell lineage involving primarily the bone marrow and the peripheral blood. This category includes precursor or acute lymphoblastic leukemias and chronic leukemias." [NCIT:C7539] |
— |
HP:0001909 |
| HPO |
HP:0005527 |
Reduced kininogen activity |
"Reduction in the amount of kininogen, which functions as a cofactor in the contact phase of the intrinsic blood coagulation cascade." [DDD:wouwehand, HPO:probinson] |
Kininogen is cleaved into the following 6 chains: 1) Kininogen-1 heavy chain; 2) T-kinin; 3) Bradykinin; 4) Lysyl-bradykinin; 5) Kininogen-1 light chain; and 6) Low molecular weight growth-promoting factor. |
HP:0005559, HP:0010989 |
| HPO |
HP:0005528 |
Bone marrow hypocellularity |
"A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat." [DDD:wouwehand, HPO:probinson] |
— |
HP:0012145 |
| HPO |
HP:0005531 |
Biphenotypic acute leukemia |
"A type of actue leukemia with features characteristic of both the myeloid and lymphoid lineages. These leukemias are for this reason are designated mixed-lineage, hybrid or biphenotypic acute leukemias." [HPO:probinson, PMID:9107085] |
— |
HP:0002488 |
| HPO |
HP:0005532 |
Macrocytic dyserythropoietic anemia |
— |
— |
HP:0001972 |
| HPO |
HP:0005534 |
Transient myeloproliferative syndrome |
"A unique clonal neoplastic disorder that is linked to trisomy 21, is restricted to neonatal period, and spontaneously regresses. It often has characteristics of megakaryocytic lineage and is associated with GATA1 mutations in myeloblasts." [PMID:22966823] |
— |
HP:0005547 |
| HPO |
HP:0005535 |
Exercise-induced hemolysis |
"A form of hemolytic anemia that can be triggered by exertion." [HPO:probinson] |
— |
HP:0001878 |