Phenotypes for disease #00017 (α-thalassaemia (Alpha thalassaemia))

46 entries on 1 page. Showing entries 1 - 46.
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AscendingPhenotype ID     

Phenotype details     

Inheritance     

Age at thalassemia presentation     

Age at current transfusion (year)     

Age at receiving first blood transfusion (year)     

Frequency of blood transfusion     

Current serum ferritin level     

Gender     

Genotype details     

Hematological parametersat diagnosis Hb level (g/dL)     

Hematological parameters at diagnosis HbA2 (%)     

Hematological parameters at diagnosis HbF (%)     

Height per age     

Height velocity     

Iron chelation     

Hematological parameters at diagnosis MCH (pg)     

Hematological parameters at diagnosis MCV (fL)     

Mid parental height     

Hematological parameters at diagnosis other Hb variants     

Size of spleen (cm)     

Splenectomy done     

Weight per age     

Owner     

Individual ID     
0000000048 Carriers - - - - - - - - - - - - - - - - - - - - - Nuur Athirah Binti Mohd Daud 00000119
0000000049 carriers - - - - - - - - - - - - - - - - - - - - - Nuur Athirah Binti Mohd Daud 00000120
0000000050 Carriers - - - - - - - - - - - - - - - - - - - - - Nuur Athirah Binti Mohd Daud 00000121
0000000051 Carriers - - - - - - - - - - - - - - - - - - - - - Nuur Athirah Binti Mohd Daud 00000122
0000000052 Carrier - - - - - - - - - - - - - - - - - - - - - Nuur Athirah Binti Mohd Daud 00000123
0000000053 Carriers - - - - - - - - - - - - - - - - - - - - - Nuur Athirah Binti Mohd Daud 00000124
0000000054 Carriers - - - - - - - - - - - - - - - - - - - - - Nuur Athirah Binti Mohd Daud 00000125
0000000055 Carriers - - - - - - - - - - - - - - - - - - - - - Nuur Athirah Binti Mohd Daud 00000126
0000000231 age: 11, has hepatosplenomegaly, developed cholelithiasis at the age of 8 years old, peripheral blood films showed hypochromic microcytic red cells with marked anisopoikilocytosis, polychromasia, basophilic stippling, target cells and occasional nucleated red blood cells - 3 - - - - F α codon 59α/αCSα 7.1 2.3 2.2 - - - 25.6 84.6 - - 10 - - Nur Aisyah Athirah 00000642
0000000232 age: 9, has hepatosplenomegaly, peripheral blood films showed hypochromic microcytic red cells with marked anisopoikilocytosis, polychromasia, basophilic stippling, target cells and occasional nucleated red blood cells - 3 - - - - M α codon 59α/αα 7.1 2.3 1.9 - - - 23.4 75.6 - - - - - Nur Aisyah Athirah 00000643
0000000233 age: 31, appeared pale and had splenomegaly, had a history of anemia and intermittent jaundice - - - - - - M α codon59α/--α3.7 10.9 2.0 1.8 - - - 24.7 76.7 - - - - - Nur Aisyah Athirah 00000644
0000000234 age: 17, appeared pale and had splenomegaly, had a history of anemia and intermittent jaundice - - - - - - M α codon59α/--α3.7 9.1 2.1 - - - - 24.0 75.4 - - - - - Nur Aisyah Athirah 00000645
0000000269 Alpha-thalassemia intermedia - 30 - 41 - - F - - - - - - - - - - - - - - Nur Aisyah Athirah 00000729
0000000270 Severe alpha-thalassemia intermedia - 2 - - - - F α codon 59α/αCSα - - - - - - - - - - - - - Nur Aisyah Athirah 00000730
0000000271 Presented at 5 months with background history of conjugated bilirubin, raised liver enzyme and neonatal hepatitis. - 0.5 - - - - F α codon 59α/αCSα - - - - - - - - - - - - - Nur Aisyah Athirah 00000731
0000000272 Patient showed haemolytic anaemia with frontal bossing, tinge of jaundice, maxillary hyperplasia and hepatosplenomegaly. - - - - - - - - - - - - - - - - - - - - - Nur Aisyah Athirah 00000735
0000000273 Presented at 9 years with anaemia and hepatosplenomegaly. - 1 - - - - - - - - - - - - - - - - - - - Nur Aisyah Athirah 00000736
0000000274 - - 3 15 - - - - - 6-7.8 - - - - - - - - - 9 - - Nur Aisyah Athirah 00000738
0000000275 Severe alpha-thalassemia intermedia - 0.2 13 0.4 - - M α codon 59α/αCSα 5.8 - - - - - - - - - - - - Nur Aisyah Athirah 00000740
0000000276 Severe alpha-thalassemia intermedia - 1 9 - - - - α codon 59α/αPakséα - - - - - - - - - - - - - Nur Aisyah Athirah 00000741
0000000325 - - - - - - - M α codon 59α/αα 12.3 - - - - - 23.6 74.3 - - - - - Nur Anis Afifah Binti Shamsudin 00000651
0000000326 Severe alpha-thalassemia intermedia - - 25 6 - - F α codon 59α/αCSα - - - - - - - - - - - - - Nur Anis Afifah Binti Shamsudin 00000732
0000000327 Severe alpha-thalassemia intermedia - - 13 0.5 - - M α codon 59α/αCSα - - - - - - - - - - - - - Nur Anis Afifah Binti Shamsudin 00000734
0000000329 Severe alpha-thalassemia intermedia - 6.5 9 6.5 - - M α codon 59α/αCSα 5.5 - - - - - - - - - - - - Nur Anis Afifah Binti Shamsudin 00000739
0000000331 - - - - - - - - - - - - - - - - 69 - - - - - Nur Anis Afifah Binti Shamsudin 00000957
0000000335 Severe alpha-thalassemia intermedia - - - - - - M α codon 59α/αCSα - - - - - - - - - - - - - Nur Anis Afifah Binti Shamsudin 00000733
0000000336 Alpha-thalassemia intermedia - 52 - - - - - - 5.6 - - - - - - - - - - - - Nur Anis Afifah Binti Shamsudin 00001012
0000000339 - - 11 - - - - F αα/-α R 11.5 1.4 35.2 - - - 31.5 73.2 - - - - - Nur Anis Afifah Binti Shamsudin 00001015
0000000340 - - 18 - - - - M -α/-α LR 10.8 1.2 34.7 - - - 34.8 79.7 - - - - - Nur Anis Afifah Binti Shamsudin 00001016
0000000341 - - - - - - - F -α/-α NE 10.7 0.7 39 - - - 30.5 72 - - - - - Nur Anis Afifah Binti Shamsudin 00001017
0000000342 - - - - - - - F αα/-α R 8.0 1.3 38.4 - - - 32.0 78.8 - - - - - Nur Anis Afifah Binti Shamsudin 00001018
0000000343 - - - 5 - - - M αα/-α R 9.5 1.3 31.1 - - - 31.1 71.4 - - - - - Nur Anis Afifah Binti Shamsudin 00001019
0000000344 - - - - - - - M - 11.2 1.0 30.9 - - - 35.1 68.0 - - - - - Nur Anis Afifah Binti Shamsudin 00001020
0000000345 - - - 19 - - - F -α/-α LR 11.7 1.0 26.8 - - - 30.6 79.4 - - - - - Nur Anis Afifah Binti Shamsudin 00001021
0000000346 - - - 31 - - - M αα/-α R 9.4 1.2 32.7 - - - 31.2 70.0 - - - - - Nur Anis Afifah Binti Shamsudin 00001022
0000000347 - - - 37 - - - F αα/-α R 8.2 1.1 41.3 - - - 36.6 73.9 - - - - - Nur Anis Afifah Binti Shamsudin 00001023
0000000348 - - - 4 - - - F αα/-α R 8.9 1.1 36.6 - - - 33.6 73.0 - - - - - Nur Anis Afifah Binti Shamsudin 00001024
0000000349 - - - 12 - - - F αα/-α R 10.8 1.1 33.0 - - - 31.5 74.1 - - - - - Nur Anis Afifah Binti Shamsudin 00001025
0000000350 - - - - - - - F - 8.9 1.3 20.3 - - - 33.6 73.0 - - - - - Nur Anis Afifah Binti Shamsudin 00001026
0000000351 - - 20 - - - - - - 8.7 - - - - - 19.4 71.9 - - - - - Nur Anis Afifah Binti Shamsudin 00001027
0000000353 - - 50 - - - - F - 11.8 - - - - - 23.4 73.2 - - - - - Nur Anis Afifah Binti Shamsudin 00001028
0000000365 - - - - - - - - - 13.0 19.9 1.4 - - - 27.0 81.0 - - - - - Nur Anis Afifah Binti Shamsudin 00001039
0000000366 - - - - - - - - - 13.1 14.5 1.8 - - - 26.5 79.5 - - - - - Nur Anis Afifah Binti Shamsudin 00001040
0000000367 - - - - - - - - - 14.6 11.3 1.1 - - - 26.7 78.9 - - - - - Nur Anis Afifah Binti Shamsudin 00001041
0000000368 - - - - - - - - - 14.5 16.9 0.6 - - - 26.5 77.9 - - - - - Nur Anis Afifah Binti Shamsudin 00001042
0000000374 - - - - - - - F - - - - - - - - - - - - - - Nur Anis Afifah Binti Shamsudin 00000737
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