| Rank (Similarity) |
PMID (PMCID) |
|
|---|---|---|
| 1 (67.4%) |
23431835 |
Hemoglobin Pyrgos with hemoglobin H disease: new triple heterozygosity. Insiripong S, Jitpakdeebodin V, Jopang Y, Fucharoen S. Southeast Asian J Trop Med Public Health. 2012;43(5):1258-61. |
| Jaundice Hepatosplenomegaly Fever Anisopoikilocytosis Hypochromia | ||
| p|SUB|G||ASPARTIC | ||
| Abnormal Hemoglobins Adult Differential Diagnosis Hemoglobin Heterozygote Homo sapiens Male Thailand alpha-Thalassemia | ||
| 2 (56.4%) |
27108201 |
Disease-modifying influences of coexistent G6PD-deficiency, Gilbert syndrome and deletional alpha thalassemia in hereditary spherocytosis: A report of three cases. Jamwal M, Aggarwal A, Kumar V, Sharma P, Sachdeva MU, Bansal D, Malhotra P, Das R. Clin Chim Acta. 2016;458:51-4. |
| Jaundice Splenomegaly Hemolytic anemia | ||
| G6PD | ||
| Adult Females Homo sapiens Male Mutation Sequence Deletion alpha-Thalassemia | ||
| 2 (56.4%) |
17164653 |
Anemia and hydrops in a fetus with homozygous hemoglobin constant spring. Charoenkwan P, Sirichotiyakul S, Chanprapaph P, Tongprasert F, Taweephol R, Sae-Tung R, Sanguansermsri T. J Pediatr Hematol Oncol. 2006;28(12):827-30. |
| Jaundice Splenomegaly Hemolytic anemia | ||
| HBA2 | ||
| rs41464951 | ||
| Abnormal Hemoglobins Anemia, Hemolytic, Congenital Blood Transfusion Females Homo sapiens Homozygote Hydrops Fetalis Pregnancy | ||
| 2 (56.4%) |
15476164 |
[Alpha 2 codon 30 deletion (deltaGAG) causing non-deletional hemoglobin H disease in Guangxi province]. Chen P, Li SQ, Wu H. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2004;21(5):435-9. |
| Jaundice Splenomegaly Anemia | ||
| HBA2 | ||
| Abnormal Hemoglobins Adult China DNA Mutational Analysis Genotype Hemoglobin H Homo sapiens Male Phenotype Polymerase Chain Reaction alpha-Thalassemia | ||
| 5 (56.0%) |
17412572 |
[Failure to thrive and psychomotor regression revealing vitamin B12 deficiency in 3 infants]. Mathey C, Di Marco JN, Poujol A, Cournelle MA, Brevaut V, Livet MO, Chabrol B, Michel G. Arch Pediatr. 2007;14(5):467-71. |
| Anemia Vomiting Vitamin B12 deficiency | ||
| NDUFB3 | ||
| Brain Failure to Thrive Females Homo sapiens Infant Magnetic Resonance Imaging Male Psychomotor Disorders Vitamin B 12 Deficiency Vomiting | ||
| 6 (54.4%) |
8431522 |
Thalassemia intermedia: compound heterozygous beta zero/beta(+)-thalassemia and co-inherited heterozygous alpha(+)-thalassemia. Kulozik AE, Kohne E, Kleihauer E. Ann Hematol. 1993;66(1):51-4. |
| Jaundice Hepatosplenomegaly Anemia | ||
| HBA2 HBB HBG1 | ||
| c|SUB|C|CD39|T c|SUB|C|CODON39|T c|SUB|T|IVS1-6|C c|SUB|T||C | ||
| Base Sequence Child Females Genotype Globin Haploidy Heterozygote Homo sapiens Molecular Sequence Data beta Thalassemia | ||
| 7 (50.0%) |
26474154 |
Coexistence of rare variant HbD Punjab [alpha2beta2(121(Glu→Gln))] and alpha 3.7 kb deletion in a young boy of Hindu family in West Bengal, India. Ghosh A, Basak J, Mukhopadhyay A. Cell Mol Biol Lett. 2015;20(5):736-42. |
| Splenomegaly Hemolytic anemia | ||
| c|SUB|GAA|CODON121|CAA p|SUB|E||Q | ||
| Abnormal Hemoglobins Adult Asians DNA Mutational Analysis Heterozygote Homo sapiens India Male Sequence Deletion Single Nucleotide Polymorphism Thalassemia Young Adult | ||
| 7 (50.0%) |
9494048 |
Persistent iron and folate deficiency in a patient with deletional hereditary persistence of fetal hemoglobin; the effect on the relative levels of Hb F and G gamma chains and the corresponding mRNAs. Landman H, Huisman TH. Hemoglobin. 1998;22(1):53-63. |
| Splenomegaly Anemia | ||
| Adult Females Fetal Hemoglobin Folic Acid Deficiency Gene Deletion Genetic Carrier Screening Globin Homo sapiens RNA, Messenger alpha-Thalassemia | ||
| 7 (50.0%) |
6164420 |
The effect of alpha-thalassemia on the expression of the beta-thalassemia/HPFH heterozygote in a black family. Beutler E, Turner E, Kuhl W. Blood. 1981;57(6):1132-4. |
| Splenomegaly Anemia | ||
| Child, Preschool DNA Restriction Enzymes Females Fetal Hemoglobin Globin Heterozygote Homo sapiens Thalassemia | ||
| 7 (50.0%) |
479366 |
Modification of hemoglobin H disease by sickle trait. Matthay KK, Mentzer WC Jr, Dozy AM, Kan YW, Bainton DF. J Clin Invest. 1979;64(4):1024-32. |
| Splenomegaly Hypochromic anemia | ||
| APP | ||
| Abnormal Hemoglobins Anemia, Sickle Cell Child, Preschool DNA Electrophoresis, Starch Gel Hemoglobin H Hemoglobin, Sickle Heterozygote Homo sapiens Isoelectric Focusing Male Phenotype Sickle Cell Trait 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 |
|---|