Legend
Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.
Phenotype details: Additional information on the phenotype of the individual.
Inheritance: Indicates the inheritance of the phenotype in the family; unknown, familial (autosomal/X-linked, dominant/ recessive), paternal (Y-linked), maternal (mitochondrial), isolated (sporadic) or complex
All options:
- Unknown
- Familial
- Familial, autosomal dominant
- Familial, autosomal recessive
- Familial, X-linked dominant
- Familial, X-linked dominant, male sparing
- Familial, X-linked recessive
- Paternal, Y-linked
- Maternal, mitochondrial
- Isolated (sporadic)
- Complex
Age at thalassemia presentation: Age at thalassemia presentation
Age at current transfusion (year): Individual's age at current transfusion
Age at receiving first blood transfusion (year): Age at receiving first blood transfusion
Frequency of blood transfusion: Requirement for blood transfusion
Current serum ferritin level: Current serum ferritin level of individual
Gender: The gender of reported individual
Genotype details: Genotype details of individual
Hematological parametersat diagnosis Hb level (g/dL): Individual's hemoglobin level (g/dL)
Hematological parameters at diagnosis HbA2 (%): Individual's hemoglobin A level. It consists of 2 alpha and 2 delta chain (α2δ2)
Hematological parameters at diagnosis HbF (%): Individual's fetal hemoglobin level in blood (%)
Height per age: Growth and development of individual
Height velocity: Growth and development of individual
Iron chelation: Iron chelation of individual. Yes or No. If yes, what type of iron chelation?
Hematological parameters at diagnosis MCH (pg): Individual's MCH level (pg)
Hematological parameters at diagnosis MCV (fL): Individual's MCV level (fL). Measures the average size of red blood cell.
Mid parental height: Growth and development of individual
Hematological parameters at diagnosis other Hb variants: Other hemoglobin variants
Size of spleen (cm): Size of spleen in cm
Splenectomy done: Splenectomy of individual
All options:
Weight per age: Growth and development of individual
How to query this table
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For all options, like "and", "or", and "not" searches, or searching for prefixes or suffixes, see the table below.
Operator |
Column type |
Example |
Matches |
|
Text |
Arg |
all entries containing 'Arg' |
space |
Text |
Arg Ser |
all entries containing 'Arg' and 'Ser' |
| |
Text |
Arg|Ser |
all entries containing 'Arg' or 'Ser' |
! |
Text |
!fs |
all entries not containing 'fs' |
^ |
Text |
^p.(Arg |
all entries beginning with 'p.(Arg' |
$ |
Text |
Ser)$ |
all entries ending with 'Ser)' |
="" |
Text |
="" |
all entries with this field empty |
="" |
Text |
="p.0" |
all entries exactly matching 'p.0' |
!="" |
Text |
!="" |
all entries with this field not empty |
!="" |
Text |
!="p.0" |
all entries not exactly matching 'p.0?' |
combination |
Text |
*|Ter !fs |
all entries containing '*' or 'Ter' but not containing 'fs' |
|
Date |
2020 |
all entries matching the year 2020 |
| |
Date |
2020-03|2020-04 |
all entries matching March or April, 2020 |
! |
Date |
!2020-03 |
all entries not matching March, 2020 |
< |
Date |
<2020 |
all entries before the year 2020 |
<= |
Date |
<=2020-06 |
all entries in or before June, 2020 |
> |
Date |
>2020-06 |
all entries after June, 2020 |
>= |
Date |
>=2020-06-15 |
all entries on or after June 15th, 2020 |
combination |
Date |
2019|2020 <2020-03 |
all entries in 2019 or 2020, and before March, 2020 |
|
Numeric |
23 |
all entries exactly matching 23 |
| |
Numeric |
23|24 |
all entries exactly matching 23 or 24 |
! |
Numeric |
!23 |
all entries not exactly matching 23 |
< |
Numeric |
<23 |
all entries lower than 23 |
<= |
Numeric |
<=23 |
all entries lower than, or equal to, 23 |
> |
Numeric |
>23 |
all entries higher than 23 |
>= |
Numeric |
>=23 |
all entries higher than, or equal to, 23 |
combination |
Numeric |
>=20 <30 !23 |
all entries with values from 20 to 29, but not equal to 23 |
Some more advanced examples:
Example |
Matches |
Asian |
all entries containing 'Asian', 'asian', including 'Caucasian', 'caucasian', etc. |
Asian !Caucasian |
all entries containing 'Asian' but not containing 'Caucasian' |
Asian|African !Caucasian |
all entries containing 'Asian' or 'African', but not containing 'Caucasian' |
"South Asian" |
all entries containing 'South Asian', but not containing 'South East Asian' |
To sort on a certain column, click on the column header or on the arrows.
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The up and down arrows next to the column name indicate the current sorting direction.
When sorting on any field other than the default, LOVD will sort secondarily on the default sort column.
|
Legend |
How to query |
Phenotype 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 |
|
Legend |
How to query |