Syndrome: 60 33 (show all 15) # Description HPO Frequency Orphanet Frequency HPO Source Accession 1 fatigue 60 33 hallmark (90%) Very frequent (99-80%) HP:0012378 2 thrombocytopenia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001873 3 microcytic anemia [malacards.org]

Name Alpha-Thalassemia Myelodysplasia Syndrome Synonyms HEMOGLOBIN H DISEASE, ACQUIRED Classification genetic, haematological Phenotypes HbH hemoglobin ; Hypochromic microcytic anemia ; Myelodysplasia ; Reduced alpha/beta synthesis ratio Associated Genes [mousephenotype.org]

anemias D529Folate deficiency anemia, unspecified D530Protein deficiency anemia D531Other megaloblastic anemias, not elsewhere classified D532Scorbutic anemia D538Other specified nutritional anemias D539Nutritional anemia, unspecified D550Anemia due [cms.gov]

------ Microcytic anemia --------Thalassemia -------- Iron deficiency anemia --------Chronic disease associated anemia (sometimes) --------Sideroblastic anemia (some such as lead poisoning) ------Normocytic anemia --------Blood Loss associated anemia [hematologyoutlines.com]

Of the uncommon anemias, “common” types include the anemia of renal disease, thalassemia, myelodysplastic syndrome and the anemia of chronic disease. [aafp.org]

Anemia (RA) • Refractory Anemia with Ringed Sideroblasts (RARS) • Refractory Anemia with Excess Blasts (RAEB) • Refractory Anemia with Excess Blasts in Transformation (RAEB-T) • Chronic Myelomonocytic Leukemia (CMML) Hematopoetic Cell Disorders • Aplastic [illinoisrighttolife.org]

Refractory anemia and refractory anemia with sideroblasts may convert to leukemia within five or more years. [aafp.org]

At the time of investigation, 35 patients had Refractory Anemia (RA), 33 RARS and 54 Refractory Anemia with Excess Blasts (RAEB). [journals.plos.org]

Chromosome abnormalities are more frequent in patients with oligoblastic myelogenous leukemia (RAEB) than in patients with clonal (refractory) anemia. [patient-help.com]

Blood film (1000 magnification) demonstrating a vacuolated blast in a refractory anemia with excess of blasts in transformation. Courtesy of U. [emedicine.medscape.com]

Affiliated tissues include myeloid, and related phenotypes are fatigue and thrombocytopenia Description from OMIM: 300448 Related Diseases for Alpha-Thalassemia Myelodysplasia Syndrome Symptoms & Phenotypes for Alpha-Thalassemia Myelodysplasia Syndrome [malacards.org]

fatigue, malaise, arthralgia, bone pain, lymphadenopathy, hepatosplenomegaly, fever/infxn, bleeding, CN/neuro abnormalities good prognostic factors for ALL female, age 3-8, low WBC, Pre-B phenotype, C10, low LDH, hyperdiploid cytogeneitcs one drug is [brainscape.com]

[…] common in southeast Asians; the most severe form of alpha thalassemia causes stillbirth due to hydrops fetalis Heredity Parents are carriers–heterozygotes; one in 4 children is homozygous for the mutation and thus has full-blown disease Clinical Pallor, fatiguability [medical-dictionary.thefreedictionary.com]

Depending on which type of alpha thalassemia is inherited, signs/symptoms will vary from no symptoms to mild anemia; to anemia, pale skin fatigue, weakness, enlarged liver or spleen, jaundice (yellow eyes/skin), failure to grow, abnormal skull shape and [nicklauschildrens.org]

Hb H disease can cause moderate to severe anemia and serious health problems such as an enlarged spleen, bone deformities, and fatigue. The signs and symptoms associated with Hb H disease vary widely. [labtestsonline.org]

Serum Screening—Second-Trimester MS SEQ1, Prenatal Screening, nuchal translucency, NT, PN screen, Down, Downs, Down's, Trisomy 21, Trisomy 18, PAPP-A, two part screen, first trimester 3000147 Maternal Serum Screening, Integrated, Specimen #1, PAPP-A, [aruplab.com]

21 oxidase deficiency congenital postsynaptic slow- uniparental disomy of Cox deficiency Saguenay Lac saint ACTH resistance chan nel Heart-hand syndrome Chromosome 21 Jean type Cox deficiency French Canadian Actinic cheilitis CMS IIa HOS 1 Uniparental [yumpu.com]

bruising, or exaggerated bleeding. [patient-help.com]

Common characteristics of EDS include easy bruising, skin hyperelasticity or laxity, joint hypermobility and tissue weakness. [aetna.com]

[…] thrombocytopenia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001873 3 microcytic anemia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001935 4 neutropenia 60 33 hallmark (90%) Very frequent (99-80%) HP:0001875 5 hbh hemoglobin 33 hallmark (90%) HP:0011903 6 dyspnea [malacards.org]

A 62-year-old woman was seen at this hospital because of dyspnea, anemia, and paraspinal masses. Examination revealed splenomegaly. Laboratory studies revealed microcytic anemia. A diagnostic test result was received. [nejm.org]

It is evaluated at 100-percent for hemoglobin of 5gm/100ml or less, with findings such as high-output congestive heart failure or dyspnea at rest. [federalregister.gov]

SCTNRPotential benets of iron chelation therapy (ICT) in MDSDecreased organ damageIn a large USMedicare population, Goldberg and colleagues found that transfusedMDS patients hada higher prevalence of billing codes related to cardiac events, diabetes mellitus, dyspnea [dokumen.tips]

Pulmonary AVMs (PAVMs) can be asymptomatic or manifest as dyspnea and hypoxemia secondary to shunting. [aetna.com]

(see Jaundice, [[Jaundice]]) Physiology : due to severe hemolytic anemia Hematologic Manifestations Aplastic Crisis Infection with Parvovirus B19 (see Parvovirus B19, [[Parvovirus B19]]): may have a disproportionate impact on these patients (due to shortened [mdnxs.com]

Depending on which type of alpha thalassemia is inherited, signs/symptoms will vary from no symptoms to mild anemia; to anemia, pale skin fatigue, weakness, enlarged liver or spleen, jaundice (yellow eyes/skin), failure to grow, abnormal skull shape and [nicklauschildrens.org]

Patients are often symptomatic at birth; many others present with neonatal jaundice or anemia. Indirect hyperbilirubinemia, elevated lactate dehydrogenase levels, and reduced haptoglobin are all consistently seen with hemolytic anemia. [emedicine.medscape.com]

Infants with HbH disease are jaundiced and may have low growth rates. Exam findings in adult HbH patients are consistent with chronic hemolytic anemia and include pallor, jaundice, hepatosplenomegaly, and leg ulcers. [clinicaladvisor.com]

Anemia can be associated with fatigue, weakness, shortness of breath, lightheadedness, headaches, and yellowing of the skin, mucous membranes and whites of the eyes (jaundice). [rarediseases.org]

Jeffrey Weitz, Professor of Medicine at McMaster University School of Medicine and Executive Director of the Thrombosis and Atherosclerosis Research Institute in Ontario. [books.google.com]

G20210A, thrombosis, plasma prothrombin, Factor V Leiden, F5, R506Q, methylenetetrahydrofolate reductase, venous thrombosis, thromboembolism, clotting 0050547 Twin Zygosity (16 markers) Twin Zygosity Testing TWIN ZYG, Fetal zygosity, mono/dizygotic differentiation [aruplab.com]

In addition, platelet aggregation activity and thrombosis are higher in splenectomized patients. [clinicaladvisor.com]

Alpha-Thalassemia Myelodysplasia Syndrome Synonyms HEMOGLOBIN H DISEASE, ACQUIRED Classification genetic, haematological Phenotypes HbH hemoglobin ; Hypochromic microcytic anemia ; Myelodysplasia ; Reduced alpha/beta synthesis ratio Associated Genes ATRX (Withdrawn [mousephenotype.org]

Apply the latest know-how on heparin-induced thrombocytopenia, stroke, acute coronary syndromes, hematologic manifestations of liver disease, hematologic manifestations of cancer, hematology in aging, and many other hot topics. [books.google.com]

[…] episodes, see Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes mitochondrial myopathy, lactic acidosis, stroke-like episode, see Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes Mitochondrial neurogastrointestinal [herenciageneticayenfermedad.blogspot.com]

Cause 18q21 deletion syndrome cause similar symptoms in a disease known as 9q34 deletion syndrome A stroke is caused by a blood clot blocking a. [amegysojulid.tk]

Clinical signs and symptoms of CADASIL include stroke, cognitive defects and/or dementia, migraine, and psychiatric disturbances. [aetna.com]

[…] biologic therapy or myelosuppresive agents to maintain platelets 30 Requiring phlebotomy, biologic therapy, or interferon on an intermittent basis, as needed, 3 or fewer times per 12-month period 10 Note (1): Rate complications such as hypertension, gout, stroke [federalregister.gov]

Meticulously updated, this exciting full-color set brings together the pathophysiology of disease with detailed clinical guidance to provide you with the most comprehensive, authoritative, up-to-date information for diagnosing and treating children. [books.google.com]

[…] later work by Youcef Mahmoudia, physician with the Hôtel-Dieu de Paris (Parisian Hospital), indicates that Paris Syndrome is "a manifestation of psychopathology related to the voyage, rather than a syndrome of the traveller". [ 7 ] He theorized that the excitement [sites.google.com]

These researchers reviewed the physiology of the cardiac calcium homeostasis, including the cardiac excitation contraction coupling and myocyte calcium cycling. [aetna.com]

anemia 33 HP:0004840 15 reduced alpha/beta synthesis ratio 33 HP:0011907 Clinical features from OMIM: 300448 Drugs & Therapeutics for Alpha-Thalassemia Myelodysplasia Syndrome Genetic Tests for Alpha-Thalassemia Myelodysplasia Syndrome Genetic tests [malacards.org]

Name Alpha-Thalassemia Myelodysplasia Syndrome Synonyms HEMOGLOBIN H DISEASE, ACQUIRED Classification genetic, haematological Phenotypes HbH hemoglobin ; Hypochromic microcytic anemia ; Myelodysplasia ; Reduced alpha/beta synthesis ratio Associated Genes [mousephenotype.org]

Anemia (see Anemia, [[Anemia]]) Hypochromia (see Peripheral Blood Smear, [[Peripheral Blood Smear]]) Hemoglobin Electrophoresis HbH Clinical Manifestations Microcytic Anemia (see Anemia, [[Anemia]]) Hydrops Fetalis with Hb Barts Physiology Loss of All [mdnxs.com]

Laboratory studies revealed microcytic anemia. A diagnostic test result was received. Funding and Disclosures This case was discussed at the Medical Grand Rounds. [nejm.org]

Introduction Hereditary disease caused by decreased production of hemoglobin chains Most common cause of microcytic anemia in Asian Americans and African Americans There are four alpha genes and two beta genes that make up three forms of hemoglobin (Hgb [medbullets.com]

Details of gross/microscopic pathology: The PB demonstrated a normocytic anemia with marked anisocytosis including a subpopulation of hypochromic, microcytic erythrocytes. [iupui.edu]

[…] anemia, PNH, congential neutropenia genetic disorders - Downs, fanconi, NF clinical manifestations of MDS anemia sx, thrombocytopenia (bleeding/bruising), leukopenia (infxns), polyarthritis, neuropathy, splenomegaly, acquired alpha thalassemia RBCs - anisocytosis [brainscape.com]

Some patients have only slight anisocytosis. Elliptical red cells sometimes dominate. Basophilic stippling of red cells occurs (Fig. 88–2). Nucleated red cells are seen in the blood film in approximately 10 percent of cases. [patient-help.com]

Red cells may also: Be paler than normal ( hypochromic ) Vary in size and shape (anisocytosis and poikilocytosis) Be nucleated (normal, mature RBCs do not have a nucleus ) Have uneven hemoglobin distribution (producing "target cells" that look like a [labtestsonline.org]

Peripheral blood smear will show hypochromia, microcytosis, anisocytosis, poikilocytosis, and rare nucleated RBCs (erythroblasts). [clinicaladvisor.com]

[…] to complement 116 and modification of red cell blood group antigens may be observed. 117 Acquired hemoglobin H disease, a rare superimposition, results in red cell morphology similar to thalassemia (microcytosis, anisocytosis, basophilic stippling, poikilocytosis [patient-help.com]

Red cells may also: Be paler than normal ( hypochromic ) Vary in size and shape (anisocytosis and poikilocytosis) Be nucleated (normal, mature RBCs do not have a nucleus ) Have uneven hemoglobin distribution (producing "target cells" that look like a [labtestsonline.org]

Peripheral blood smear will show hypochromia, microcytosis, anisocytosis, poikilocytosis, and rare nucleated RBCs (erythroblasts). [clinicaladvisor.com]

Figure 2 The Haemoglobin Bart's hydrops syndrome. a. peripheral blood film with immature red-cell precursors and hypochromic, microcytic, red cells showing anisocytosis and poikilocytosis; b. stillborn hydropic infant [ 5 ]. [ojrd.biomedcentral.com]