Alpha-thalassemia-myelodysplastic syndrome

An acquired form of alpha-thalassemia characterized by a myelodysplastic syndrome (MDS) or more rarely a myeloproliferative disease (MPD) associated with hemoglobin H disease (HbH).



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Narrow down the case reports



Total: 9 (papers)

   


(per page)
Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
1
(4.0%)		 17627922
 [Acquired alpha-thalassemia as early sign for myelodysplastic syndrome (refractory anaemia) with secondary haemochromatosis].
Perrin J, Perrot A, Chenot V, Lesesve JF, Guerci A, Marchand-Arvier M, Vigneron C, Lecompte T.
Ann Biol Clin (Paris). 2007;65(4):405-9.
Aspiration
ATRX
Erythrocytes Hemochromatosis Homo sapiens Male Middle Aged alpha-Thalassemia
1
(4.0%)		 15692723
 Acquired hemoglobin H disease in a patient with aplastic anemia evolving into acute myeloid leukemia.
Figueiredo MS, Vicari P, Kimura EY, Antunes SV, Yamamoto M.
Sao Paulo Med J. 2004;122(6):273-5.
Acute leukemia
Acute Disease Adult Aplastic Anemia Fatal Outcome Hemoglobin H Homo sapiens Male Myeloid Leukemia Time Factors
1
(4.0%)		 7524169
 [Acquired hemoglobin H disease associated with a myelodysplastic syndrome].
Perez Calvo J, Gonzalez Fernandez FA, Santillana T, Alarcon C, Farinas M, Sanchez J, Martinez Martinez R, Villegas A.
Sangre (Barc). 1994;39(3):211-3.
Hypochromia
Blood Cells Bone Marrow Globin Homo sapiens Inclusion Bodies Male Middle Aged Oxazines Staining and Labeling alpha-Thalassemia
1
(4.0%)		 7351008
 Myeloproliferative syndrome with sideroblastic anemia and acquired hemoglobin H disease.
Yoo D, Schechter GP, Amigable AN, Nienhuis AW.
Cancer. 1980;45(1):78-83.
Hemolytic anemia
HBB
Abnormal Hemoglobins Globin Hemoglobin H Homo sapiens Male Middle Aged RNA, Messenger Syndrome Thalassemia
1
(4.0%)		 6433631
 Acquired hemoglobin H disease in a case of refractory anemia with excess of blasts (RAEB) evolving into acute nonlymphoid leukemia.
Annino L, Di Giovanni S, Tentori L Jr, Cafolla A, Nanni Costa MP, Salvagnini ML, Angeli G.
Acta Haematol. 1984;72(1):41-4.
Leukemia
HBA1
Aplastic Anemia Bone Marrow Cells Electrophoresis, Cellulose Acetate Homo sapiens Male Thalassemia
1
(4.0%)		 3279751
 Myelodysplastic syndrome with acquired hemoglobin H disease. Evolution through megakaryoblastic transformation into myelofibrosis.
Abbondanzo SL, Anagnou NP, Sacher RA.
Am J Clin Pathol. 1988;89(3):401-6.
Myelofibrosis
Acute Megakaryocytic Leukemias Homo sapiens Male Middle Aged Neoplastic Cell Transformation Primary Myelofibrosis Thalassemia
1
(4.0%)		 2214193
 [An erythremia with acquired HbH disease and chromosomal abnormality].
Yoshida N, Horikoshi A, Kanemaru M, Shimada H, Takeuchi J, Ohshima T, Horie T, Tsuchiya T, Kamei K, Ishikawa S, et al..
Rinsho Ketsueki. 1990;31(7):963-8.
Splenomegaly
Chromosome Deletion Chromosomes, Human, Pair 20 Chromosomes, Human, Pair 7 Homo sapiens Male Middle Aged Polycythemia Vera Thalassemia
1
(4.0%)		 1312251
 [Acquired hemoglobin H disease in the early stage of erythroleukemia].
Burgi W, Schlup P, Deubelbeiss KA, Fischer S, Killer D.
Schweiz Med Wochenschr. 1992;122(10):348-50.
Hypochromic anemia
Acute Erythroblastic Leukemia Hemoglobin H Homo sapiens Inclusion Bodies Male
1
(4.0%)		 484543
 Acquired hemoglobin H disease in idiopathic myelofibrosis.
Veer A, Kosciolek BA, Bauman AW, Rowley PT.
Am J Hematol. 1979;6(3):199-206.
Myelofibrosis
Abnormal Hemoglobins Globin Hemoglobin H Homo sapiens Male Primary Myelofibrosis RNA, Messenger Reticulocytes Thalassemia
        

Phenotype(s) retrieved from Orphanet

    Total: 12

HPO ID Term Frequency
HP:0001873 Thrombocytopenia Very frequent (99-80%)
HP:0001875 Neutropenia Very frequent (99-80%)
HP:0001935 Microcytic anemia Very frequent (99-80%)
HP:0011903 HbH hemoglobin Very frequent (99-80%)
HP:0012378 Fatigue Very frequent (99-80%)
HP:0000978 Bruising susceptibility Frequent (79-30%)
HP:0001892 Abnormal bleeding Frequent (79-30%)
HP:0002094 Dyspnea Frequent (79-30%)
HP:0001744 Splenomegaly Occasional (29-5%)
HP:0002488 Acute leukemia Occasional (29-5%)
HP:0002721 Immunodeficiency Occasional (29-5%)
HP:0002863 Myelodysplasia Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 1

HPO ID Term # of case reports
HP:0001909 Leukemia 1


Causative gene(s) retrieved from Orphanet

    Total: 1

Gene Symbol Gene Name Entrez Gene ID
ATRX ATRX chromatin remodeler 546