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Journal of Chinese Integrative Medicine ›› 2009, Vol. 7 ›› Issue (2): 116-120.doi: 10.3736/jcim20090204

Special Issue: Traditional Chinese Medicine

• Original Clinical Research • Previous Articles     Next Articles

A family survey of syndromes of traditional Chinese medicine in patients with β-thalassemia

 Wen-juan Wanga,b,Zhi-kui Wua,Xin-hua Zhangc, Wen-jun Liua, Yong-mei Liua, Su-ping Fanga, Rong-xin Wangc, Chong Zhanga, Ping-ping Lic, Rui-gui Luoc   

  1. a Department of Molecular Biology, Guang^anmen Hospital, China Academy of Chinese Medical Sciences, Beijing 100053, China
    b School of Traditional Chinese Medicine, Traditional Chinese Medicine Institute, Capital Medical University, Beijing 100069, China
    c Department of Haematology, 303th Hospital of People's Liberation Army, Nanning, Guangxi Zhuang Autonomous Region 530021, China
  • Received:2008-09-23 Accepted:2008-12-09 Online:2009-02-20 Published:2009-02-15

Objective

To explore the relationship between syndromes of traditional Chinese medicine (TCM) and genetic background in patients with β-thalassemia.
Methods

TCM syndromes were surveyed in the selected 78 patients with β-thalassemia intermedia including 120 parents. The gene mutations were detected separately. The frequency and score of TCM syndromes between the offspring and their parents in different family types were analyzed, and the differences were compared.
Results

The 73 families were divided into two family types by hereditary characteristics. Family type one meant that genotypes of one of the parents were normal, while the offspring genotypes were heterozygous and were exactly the same as another parent. In the 22 families of type one, the heterozygous offspring manifested 6 high-frequency symptoms and signs such as spontaneous perspiration, dry mouth and dry throat, pale or sallow complexion, tidal fever and night sweating, lassitude and pale fingernails. The heterozygous parents manifested 5 high-frequency symptoms and signs such as lassitude in loins and knees, dizziness, aversion to cold and cold limbs, tinnitus, dry mouth and dry throat. The normal parents manifested 3 high-frequency symptoms and signs such as lassitude in loins and knees, dizziness, and spontaneous perspiration. TCM syndrome score in the heterozygous offspring was higher than that in the heterozygous and normal parents, but there was no significant difference (P>0.05). Family type two meant that genotypes of both parents were heterozygous, while the offspring genotypes were heterogenic duplex heterozygotes. In the 51 families of type two, the offspring manifested 9 high-frequency symptoms and signs such as pale or sallow complexion, spontaneous perspiration, dry mouth and dry throat, pale fingernails, tidal fever and night sweating, lassitude, frequent attack of common cold, dysphoria with feverish sensation in chest, and yellow discoloration of the skin and sclera. The parents manifested 3 high-frequency symptoms and signs such as lassitude in loins and knees, dizziness, aversion to cold and cold limbs. TCM syndrome score in the offspring was significant higher than that in the parents (P<0.01).
Conclusion

In the two family types, TCM syndrome in the offspring is of yin-blood deficiency, while the syndrome of the parents is of kidney deficiency. The differences of TCM syndromes between the offspring and the parents may have some relations to the type of mutant genes and genetically modified ingredients. This research provides scientific evidence to TCM syndrome differentiation treatment of thalassemia.

Key words: β-thalassemia, Genes, Symptom complex, Genetics, Medical

Table 1

Distribution of mutant genes in 22 families"

Group Mutant gene Cases
Heterozygous offspring and parent
(n=42)
CD17/βN 15
CD41-42/βN 15
CD71-72/βN 6
IVS-Ⅱ-654/βN 6
Normal parent (n=19) βN/βN 19

Table 2

Frequency distribution of symptoms and signs in 22 families [Cases (%)]"

Symptom and sign Heterozygous offspring
(n=22)
Heterozygous parent
(n=20)
Normal parent
(n=19)
Spontaneous perspiration 16 (72.8)**△△ 3 (15.0) 6 (31.6)
Dry mouth and dry throat 16 (72.8)*△△ 7 (35.0) 5 (26.3)
Pale or sallow complexion 14 (63.6)**△△ 0 (0) 0 (0)
Tidal fever and night sweating 10 (45.5)*△△ 3 (15.0) 1 (5.3)
Lassitude 10 (45.5)* 3 (15.0) 3 (15.8)
Pale fingernails 9 (40.9) 4 (20.0) 3 (15.8)
Dizziness 6 (27.3) 9 (45.0) 6 (31.6)
Constipation 4 (18.2) 3 (15.0) 2 (10.5)
Frequent attack of common cold 4 (18.2) 1 (5.0) 2 (10.5)
Abdominal distention 4 (18.2) 2 (10.0) 5 (26.3)
Lassitude in loins and knees 4 (18.2)△△ 9 (45.0) 12 (63.2)
Dysphoria with feverish sensation in chest 3 (13.6) 1 (5.0) 3 (15.8)
Palpitation 3 (13.6) 3 (15.0) 2 (10.5)
Shortness of breath 3 (13.6) 3 (15.0) 3 (15.8)
Aversion to cold and cold limbs 3 (13.6) 8 (40.0) 4 (21.1)
Tinnitus 2 (9.1) 7 (35.0) 5 (26.3)
Yellow discoloration of the skin and sclera 1 (4.5) 0 (0) 0 (0)

Table 3

Distribution of mutant genes in 51 families"

Group Mutant gene Cases
Offspring (n=56) -28/-28 2
CD17/CD17/-α3.7 1
CD41-42/CD41-42/--SEA 1
CD41-42/CD41-42/-α3.7 1
-28/CD17 4
-28/CD17/-α3.7 1
-28/CD41-42 7
-28/CD71-72 1
-29/-28 3
-29/CD17 1
CD17/CD26 6
CD17/CD26/-α4.2 1
CD17/CD41-42 2
CD17/CD41-42/--SEA 2
CD17/CD43 1
CD17/CD43/--SEA 1
CD17/IVS-Ⅱ-654 1
CD26/CD41-42 10
CD26/CD71-72 3
CD41-42/-29 2
CD41-42/βN/-α3.7 1
IVS-Ⅰ-1/CD26 1
IVS-Ⅰ-1/CD41-42 1
IVS-Ⅰ-1/CD41-42/-α3.7 1
IVS-Ⅰ-1/IVS-Ⅱ-654 1
Parent (n=81) -28/βN 14
-29/βN 3
CD17/βN 14
CD17/βN/--SEA 1
CD17/βN/-α3.7 1
CD26/βN 16
CD26/βN/-α4.2 1
CD41-42/βN 22
CD41-42/βN/--SEA 2
CD41-42/βN/-α3.7 1
CD71-72/βN 1
IVS-Ⅰ-1/βN 2
IVS-Ⅱ-654/βN 2
3.7N 1

Table 4

Frequency distribution of symptoms and signs in 51 families[Cases (%)]"

Symptom and sign Offspring
(n=56)
Parent
(n=81)
Pale or sallow complexion 46 (82.1)** 0 (0)
Spontaneous perspiration 44 (78.6)** 15 (18.5)
Dry mouth and dry throat 44 (78.6)** 23 (28.4)
Pale fingernails 41 (73.2)** 12 (14.8)
Tidal fever and night sweating 32 (57.1)** 7 (8.6)
Lassitude 31 (55.4)** 8 (9.9)
Frequent attack of common cold 23 (41.1)** 11 (13.6)
Dysphoria with feverish
sensation in chest
21 (37.5)** 5 (6.2)
Yellow discoloration
of the skin and sclera
19 (33.9)** 0 (0)
Palpitation 15 (26.8) 18 (22.2)
Constipation 14 (23.3)** 6 (7.4)
Lassitude in loins and knees 12 (21.4)* 32 (39.5)
Abdominal distention 12 (21.4) 8 (9.9)
Dizziness 11 (19.6) 27 (33.3)
Tinnitus 9 (16.1) 18 (22.2)
Shortness of breath 6 (10.7) 9 (11.1)
Aversion to cold and cold limbs 2 (3.6)** 28 (34.6)
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