| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 11 (48.9%) |
28899405 (5596485) |
Neonatal hemolytic anemia does not always indicate thalassemia: a case report. Al-Harazi AA, Al-Eryani BM, Al-Sharafi BA. BMC Res Notes. 2017;10(1):476. |
| Hypertrichosis Hepatosplenomegaly Hemolytic anemia | ||
| Anemia, Hemolytic Child, Preschool Diagnostic Errors Homo sapiens Infant, Newborn Male Porphyria, Erythropoietic alpha-Thalassemia | ||
| 11 (48.9%) |
18235510 |
Homozygous alpha-thalassemia in a growth retarded, non-hydropic premature newborn. Ng YP, Joseph R, Biswas A. J Perinatol. 2008;28(2):158-9. |
| Hypospadias Anemia Hepatomegaly | ||
| Adult Fatal Outcome Females Fetal Growth Retardation Homo sapiens Homozygote Hydrops Fetalis Infant, Newborn Infant, Premature, Diseases Male Pregnancy Preterm Infant | ||
| 11 (48.9%) |
11843288 |
Triple heterozygosity of a hemoglobin variant: hemoglobin Pyrgos with other hemoglobinopathies. Jetsrisuparb A, Sanchaisuriya K, Fucharoen G, Fucharoen S, Wiangnon S, Komwilaisak P. Int J Hematol. 2002;75(1):35-9. |
| Hepatosplenomegaly Anemia | ||
| BCS1L GGCT | ||
| Abnormal Hemoglobins Alleles Amino Acid Substitution Anemia, Hemolytic, Congenital Blood Protein Electrophoresis Blood Transfusion Child Child, Preschool Combined Modality Therapy DNA Mutational Analysis Electrophoresis, Cellulose Acetate Females Globin Hemoglobin E Heterozygote Homo sapiens Missense Mutation Point Mutation Splenectomy alpha-Thalassemia | ||
| 14 (44.4%) |
12811418 |
[HbH disease--a rare differential diagnosis in a patient with anemia and abdominal pain]. Fabry U, Kohne E, Galm O, Osieka R. Med Klin (Munich). 2003;98(6):335-8. |
| Anemia Abdominal pain Poikilocytosis | ||
| HBA1 | ||
| Abdominal Pain Anemia, Hemolytic Differential Diagnosis Electrophoresis Genotype Hemoglobin Homo sapiens Male Middle Aged Mutation alpha-Thalassemia | ||
| 15 (42.9%) |
3692334 |
Hemoglobin barts hydrops fetalis syndrome. Bowman E, Watts J, Burrows R, Chui DH. Haematologia (Budap). 1987;20(3):125-30. |
| Fetal ascites Hemoglobin Barts | ||
| HBA2 | ||
| Abnormal Hemoglobins Adult Chromosome Deletion Edema Females Fetal Diseases Globin Homo sapiens Homozygote Pregnancy Thalassemia | ||
| 16 (42.7%) |
16370487 |
Adult onset of a Thalassemia intermedia genotype in association with a -alpha-3.7 homozygosity. Hb G-Accra [beta73(e17)Asp-->Asn] in combination with beta- and alpha-thalassemia in the same family. van der Padt A, Bouva M, Auwerda JJ, Dees A, Harteveld CL, Giordano PC. Hemoglobin. 2005;29(4):269-76. |
| Hypochromic anemia Abdominal pain Mediastinal lymphadenopathy | ||
| c|SUB|C|-88|T c|SUB|C|IVS-II-654|T p|SUB|D||N p|SUB|E17,D||N | ||
| Abnormal Hemoglobins Adult Age of Onset DNA Mutational Analysis Fetal Hemoglobin Genotype Homo sapiens Lymphatic Diseases Male Point Mutation alpha-Thalassemia beta Thalassemia | ||
| 17 (37.5%) |
22082743 (3302209) |
Juvenile cobalamin deficiency in a 17-year-old child with autonomic dysfunction and skin changes. Siddiqui AH, Ansari A, Beech CM, Shah NP, Tanner SM, Sarnaik SA. J Pediatr Hematol Oncol. 2012;34(2):140-2. |
| Normocytic anemia Ileus | ||
| Cryptorchidism Exanthema Gastroschisis Homo sapiens Hydronephrosis Male Multicystic Dysplastic Kidney Vitamin B 12 Deficiency | ||
| 18 (35.1%) |
2294990 |
Recurrent acute splenic sequestration crisis due to interacting genetic defects: hemoglobin SC disease and hereditary spherocytosis. Warkentin TE, Barr RD, Ali MA, Mohandas N. Blood. 1990;75(1):266-70. |
| Spherocytosis | ||
| Anemia, Sickle Cell Erythrocyte Deformability Erythrocyte Membrane Hemoglobin SC Disease Homo sapiens Male Spectrin Splenic Diseases | ||
| 19 (34.2%) |
9640602 |
Pyruvate kinase deficiency in an alpha-thalassemia family: first case report in Thailand. Tanphaichitr VS, Suvatte V, Mahasandana C, Veerakul G, Pung-amritt P, Tachavanich K, Ideguchi H. Southeast Asian J Trop Med Public Health. 1997;28 Suppl 3:64-8. |
| Jaundice Splenomegaly | ||
| Child Erythrocytes Family Females Homo sapiens Pyruvate Kinase Thailand alpha-Thalassemia | ||
| 20 (33.4%) |
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 Poikilocytosis | ||
| ATRX | ||
| Erythrocytes Hemochromatosis Homo sapiens Male Middle Aged alpha-Thalassemia |
Total: 12
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001935 | Microcytic anemia | Very frequent (99-80%) |
| HP:0011902 | Abnormal hemoglobin | Very frequent (99-80%) |
| HP:0000952 | Jaundice | Occasional (29-5%) |
| HP:0001081 | Cholelithiasis | Occasional (29-5%) |
| HP:0001744 | Splenomegaly | Occasional (29-5%) |
| HP:0001789 | Hydrops fetalis | Occasional (29-5%) |
| HP:0001878 | Hemolytic anemia | Occasional (29-5%) |
| HP:0001903 | Anemia | Occasional (29-5%) |
| HP:0001971 | Hypersplenism | Occasional (29-5%) |
| HP:0002863 | Myelodysplasia | Occasional (29-5%) |
| HP:0010978 | Abnormality of immune system physiology | Occasional (29-5%) |
| HP:0100543 | Cognitive impairment | Occasional (29-5%) |
Total: 35
| HPO ID | Term | # of case reports |
|---|---|---|
| HP:0001903 | Anemia | 16 |
| HP:0001878 | Hemolytic anemia | 4 |
| HP:0001935 | Microcytic anemia | 3 |
| HP:0005507 | Hemoglobin Barts | 3 |
| HP:0032231 | Hypochromia | 3 |
| HP:0000252 | Microcephaly | 2 |
| HP:0000822 | Hypertension | 2 |
| HP:0001931 | Hypochromic anemia | 2 |
| HP:0011902 | Abnormal hemoglobin | 2 |
| HP:0000037 | Male pseudohermaphroditism | 1 |
| HP:0000047 | Hypospadias | 1 |
| HP:0000135 | Hypogonadism | 1 |
| HP:0000138 | Ovarian cyst | 1 |
| HP:0000238 | Hydrocephalus | 1 |
| HP:0000488 | Retinopathy | 1 |
| HP:0000518 | Cataract | 1 |
| HP:0000717 | Autism | 1 |
| HP:0000979 | Purpura | 1 |
| HP:0001249 | Intellectual disability | 1 |
| HP:0001511 | Intrauterine growth retardation | 1 |
| HP:0001601 | Laryngomalacia | 1 |
| HP:0001658 | Myocardial infarction | 1 |
| HP:0001659 | Aortic regurgitation | 1 |
| HP:0001744 | Splenomegaly | 1 |
| HP:0001927 | Acanthocytosis | 1 |
| HP:0001980 | Megaloblastic bone marrow | 1 |
| HP:0001994 | Renal Fanconi syndrome | 1 |
| HP:0002089 | Pulmonary hypoplasia | 1 |
| HP:0002099 | Asthma | 1 |
| HP:0002104 | Apnea | 1 |
| HP:0004322 | Short stature | 1 |
| HP:0005162 | Left ventricular dysfunction | 1 |
| HP:0025356 | Psychomotor retardation | 1 |
| HP:0030431 | Osteochondroma | 1 |
| HP:0100242 | Sarcoma | 1 |
Total: 0
| Gene Symbol | Gene Name | Entrez Gene ID |
|---|