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17.04.2019 | Images
Clinico-Hematological Presentation of Rare Hemoglobin Variant (HB-O Indonesia) in 3 Families
Erschienen in: Indian Journal of Hematology and Blood Transfusion | Ausgabe 3/2019
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In India, Hemoglobinopathies poses a significant burden on the society. It can be prevented by screening, genetic counseling and antenatal diagnosis. During a community screening program, A rare Hb-O Indonesia (HBA1:c.349G > A) (HbOind) in 3 unrelated families of the same Jharia community were encountered. This variant has a heterogeneous phenotypic effect thereby necessitating a need for correlating it with associated clinical presentations. Here, red cell indices of individuals carrying HbOInd (other than the proband) were within the normal range (Table 1).
Table 1
Hematological indices of studied individuals
|
Age/sex
|
HB (g/dl)
|
RBC (X 106/µl)
|
MCV (fl)
|
MCH (pg)
|
HbA (%)
|
HBA2 (%)
|
HBF (%)
|
HbOInd (%)
|
HBS (%)
|
|
|---|---|---|---|---|---|---|---|---|---|---|
|
Family 1
|
||||||||||
|
Father
|
85 year/M
|
14.0
|
5.63
|
71.8
|
24.9
|
47.6
|
2.6
|
0.3
|
12.2
|
25.3
|
|
Mother (proband)
|
80 year/F
|
5.3
|
3.17
|
68.2
|
16.7
|
74.7
|
0.3
|
1.3
|
14.4
|
–
|
|
Offspring 1
|
51 year/M
|
14.4
|
4.18
|
77.8
|
26.8
|
59.7
|
1.4
|
0.2
|
29.6
|
–
|
|
Offspring 2
|
45 year/M
|
14.8
|
5.14
|
83.5
|
28.8
|
59.8
|
1.4
|
0.3
|
30.0
|
–
|
|
Offspring 3
|
40 year/F
|
13.3
|
5.13
|
77.8
|
25.9
|
69.8
|
1.9
|
0.1
|
19.4
|
–
|
|
Grand daughter
|
21 year/F
|
13.8
|
4.66
|
86.9
|
29.6
|
74.8
|
2.2
|
0.7
|
14.2
|
–
|
|
Family 2
|
||||||||||
|
Father
|
40 year/M
|
15.0
|
5.19
|
85.4
|
28.9
|
57.3
|
2.6
|
0.4
|
–
|
30.7
|
|
Mother
|
35 year/F
|
11.2
|
4.26
|
82.6
|
26.3
|
71.5
|
1.6
|
0.3
|
11.7
|
–
|
|
Proband
|
4 year/M
|
11.1
|
4.77
|
72.1
|
25.3
|
67.5
|
1.5
|
0.5
|
18.9
|
–
|
|
Sibling
|
8 year/F
|
12.5
|
4.82
|
76.8
|
25.9
|
49.0
|
1.9
|
0.7
|
7.5
|
28.9
|
|
Family 3
|
||||||||||
|
Father
|
35 year/M
|
15.2
|
5.49
|
87.3
|
27.6
|
84.8
|
2.7
|
0.3
|
–
|
–
|
|
Mother
|
32 year/F
|
10.9
|
4.32
|
77.8
|
25.2
|
48.1
|
2.5
|
0.6
|
6.4
|
32.8
|
|
Proband
|
16 year/F
|
10.3
|
4.45
|
71.4
|
23.1
|
49.2
|
2.2
|
0.5
|
11.3
|
25.6
|
|
Sibling 1
|
13 year/F
|
10.4
|
4.32
|
76.8
|
24.0
|
74.2
|
2.1
|
0.4
|
13.0
|
–
|
|
Sibling 2
|
10 year/F
|
10.9
|
4.86
|
69.0
|
22.4
|
48.4
|
2.4
|
1.0
|
11.2
|
25.5
|
|
Sibling 3
|
7 year/M
|
11.5
|
4.38
|
81.2
|
26.2
|
47.2
|
2.3
|
0.9
|
7.2
|
32.6
|