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Journal of Genetic Engineering and Biotechnology

Table 1 Genotype/phenotype correlation in AA patients

From: Studying the pathogenicity of 26 variants characterized in the first molecular analyses of Egyptian aplastic anemia patients

No

Sex

Age/year

Consanguinity

Family history

Hb g/dl

WBCs Cells x 103

Plts Cells/cm3

BM cellularity %

Severity

Clinical presentation

Associated abnormalities

MPL gene

TERT gene

TERC gene

TERT expression

Telomere length

Follow-up

1

M

11

+

-

9

4

95,000

40–50

Moderate

Pallor

Short stature

Microcephaly

Ventricular septal defect (VSD)

Skin pigmentation

Neuroglial manifestation Undescended testis

-

c.835G>A , hetero/c.761G>A, hetero

n.514 A>G, hetero

Downregulated

Shortened

No response

2

M

9.5

+

-

6.4

3.6

80,000

<10

Severe

Pallor-Ecchymosis

Neurological manifestation (CP)

Microcephaly

short stature

Undescended testis

-

c.835G>A, hetero/c.1336C>, hetero

-

Downregulated

Shortened

No response

3

M

3

+

-

5,9

4

10,000

5–10

Severe

Pallor, Petechiae

Dysmorphic facies-microcephaly

g.11634T>A, hetero

-

n.514 A>G, homo

Normal

Shortened

No response

4

M

8

+

_

8

3.5

40,000

40–50

Moderate

Petechiae-ecchymosis

 

-

c.512G>A, hetro

-

Downregulated

Shortened

Response

5

F

4

-

-

10.4

5.4

17,000

<10

Severe

Petechiae ecchymosis

-

g.11634T>, hetero

c.915G>A, hetero

n.514 A>G, hetero

Downregulated

Shortened

Good response

6

M

16

+

+

9.3

3.6

17,000

<10

Severe

Weight loss-fatigue-petechiae

-

 

Double hetero, c.835G>A /c.2031C>T

-

Downregulated

Shortened

Relapse and Develop myelodysplasia

7

M

10

+

-

6

3.2

16,000

<10

Severe

Ecchymosis–hematemesis syncopal attacks

-

g.11634T>, hetero

c.512G>A hetero/c.915G>A,hetero

-

Downregulated

Normal

Good response

8

M

9

+

-

7

3

10,000

10–20

Severe

Ecchymosis-epistaxis

-

c.543T>C hetero

c.512G>A hetero g.22755A>G, hetero,

-

Downregulated

Shortened

Good response

9

M

13

+

+

10

4.2

47,000

40–50

Moderate

Recurrent infection and fever

Abnormal skin pigmentation, nail dystrophy Microcephaly - shot stature

g.11634T>, hetero

c.915G>A, hetero

-

Downregulated

Shortened

No treatment

Undergo HSCT

10

M

7

+

+

9.5

4

40,000

40–50

Moderate

Recurrent infection and fever

Abnormal skin pigmentation - nail dystrophy

g.11634T>, hetero

c.915G>A, hetero

-

Downregulated

Shortened

No treatment

Undergo HSCT

11

M

7

+

-

9

3.2

37,000

<10

Severe

Pallor-petechiae -ecchymosis

Neurological manifestation (hyperreflexia of LL)

-

c.2031C>T, hetero

-

Downregulated

Shortened

No response

12

M

3

+

+

9.1

6.8

10,000

<10

Severe

Epistaxis-bleeding gums-hematemesis

-

c.1589

C>T

homo

c.499G>A, hetero

 

Downregulated

Shortened

No response

13

M

4

-

-

10.3

4.6

21,000

<10

Severe

Pallor-Jaundice

-

-

c.499G>A, hetero

n.463 C>T hetero

Normal

Shortened

Good response

14

F

3

-

-

7.8

3

13,000

10–20

Severe

Epistaxis-subconjunctival hemorrhage

-

c.305G>A, homo

c.499G>A, hetero/c.915G>A, hetero

-

Normal

Shortened

No response

15

M

11

+

-

6.4

3.2

12,000

<10

Severe

Fever-bleeding gums

-

-

-

n.514 A>G, hetero

Normal

Shortened

No response

16

F

13

-

-

8

2.4

11,000

30–40

Moderate

Purpura-ecchymosis

-

g.11387T>C, hetero

-

n.514 A>G, hetero

Downregulated

Normal

No response

17

F

3

+

-

8

7.4

15,000

<10

Severe

Pallor

Short stature renal anomaly (absent LT kidney)

g.9130T>G, hetero

c.835G>A, hetero

-

Downregulated

Shortened

No response

18

M

6

-

-

9

1.8

2000

<10

Severe

Bleeding gums-bruises

Ecchymosis

-

g.11387T>C, hetero

c.484 G>A, hetero c.915G>A, hetero

g.40734A>G, hetero

-

Downregulated

Shortened

No response

19

M

11

+

-

8.9

1.8

10,000

<10

Severe

Bleeding per gums-ecchymosis

Intracranial hemorrhage-delayed mental development

-

-

n.514, A>G, hetero

Downregulated

Marked shortening

No response

20

M

3

-

+

5

3.9

90,000

40–45

Moderate

Severe pallor

-

-

-

n.514 A>G, hetero

Downregulated

Shortened

No ttt

21

M

3

-

-

8

3.4

21,000

<10

Severe

Petechiae -ecchymosis

-

c.340G>A, hetero

c.3164C>G, hetero/c.915G>A, hetero

-

Normal

Shortened

No ttt

22

F

12

+

-

8

2.9

40,000

<10

Severe

Epistaxis, bruises

Microcephaly

-

c.499G>A hetero

-

Downregulated

Shortened

Response

23

M

5

-

-

10.5

4.7

108,000

30–40

Moderate

Spontaneous ecchymosis

-

-

c.499G>A hetero

-

Normal

Shortened

Response

24

M

10.5

-

-

9.4

1.8

25,000

<10

Severe

Purpuric eruption

-

c.401C>G, hetero\g.8598G>A hetero, g.11387T/C, hetero

-

-

Downregulated

Shortened

No ttt

25

M

10

-

-

6

3

5000

<10

Severe

Pallor petechiae

-

-

c.499G>A, hetero

c.915G>A, hetero

-

Downregulated

Marked shortening

No response

26

M

15

-

-

8

3.5

13,000

<10

Severe

Petechiae

café au lait patches

g.11634T>, hetero

 

-

Normal

Shortened

Good response

27

F

7

-

-

10.5

3.2

70,000

<10

Severe

Petechiae-recurrent infection

-

-

-

-

Downregulated

Shortened

Good response

28

M

8

-

-

9.4

4.6

34,000

<10

Severe

Petechiae ecchymosis

-

g.11634T>A, hetero

-

-

Downregulated

Shortened

Good response

29

M

14

+

-

7

3

12,000

10–20

Severe

Pallor-Easy fatigability

-

c.1631G>A, hetero

g.11634T>A, hetero

-

-

Normal

Shortened

No response

30

M

3

-

-

6.1

3.2

92,000

<10

Severe

Fever - sepsis

-

g.11634T>A, hetero

-

-

Downregulated

Shortened

No response

31

M

6

-

-

7

1.7

5000

<10

Severe

Purpura-ecchymosis

-

 

c.690A>G hetero

-

Normal

Shortened

No response

32

M

12

+

-

8.7

4.9

37,000

<10

Severe

Pallor-petechiae

-

 

g.40734A>G

-

Normal

Normal

No response

33

M

9

+

-

7.5

4.4

50,000

<10

Severe

Pallor-epistaxis

-

 

c.915G>A, hetero

-

Normal

Shortened

No response

34

F

10

+

-

7.8

9

68,000

<10

Severe

Petechiae

-

-c.340G>A, hetero

-

-

Downregulated

Shortened

No response

35

F

5

-

-

7.2

1.4

50,000

<10

Severe

Ecchymosis-petechiae-epistaxis-bleeding from other orifices

-

g.11387T>C, hetero

915G>A, hetero -

-

Downregulated

Shortened

No response and died from sepsis

36

F

12

+

-

8.2

2.2

28,000

<10

Severe

Menorrhagia-vaginal bleeding-epistaxis

-

g.11387T>C, hetero

-

-

Downregulated

Normal

No response

37

M

1.5

-

-

11.2

6

25,000

40

Moderate

Petechiae

Absent ulna and radius

-

c.915G>A, hetero

-

Downregulated

Normal

No ttt

38

F

6.5

+

-

9.5

4.9

39,000

30–40

Moderate

Pallor-Anemia

-

-

-

-

Downregulated

Normal

No ttt

39

M

12.5

-

-

7.4

3.5

6000

<10

Severe

Pallor-dizziness-fatigue

-

c.340G>A, hetero

g.22912G>T, hetero

-

Downregulated

Shortened

Good response

40

F

13

-

-

9

3.8

90,000

40–50

Moderate

Pallor

Short stature-underweight

Hypoplastic nose

g.11634T>A, hetero

-

-

Normal

Normal

No response

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