s***2 发帖数: 11 | 1 ld(33岁)去年被医生查出患有alpha型轻度地中海贫血,她除了平时容易犯困,磕着
碰着皮肤容易瘀青以外,并没有其他明显症状。按当时医生的说法是不要过度劳累就好
,而且要注意体重变化,不要下降的太快(过去6个月还重了6lb),当时并没有开药。
现在我们打算要孩子,想请教一下各位医生,在备孕和怀孕期间有什么要注意的么?以
后的孩子有多大的可能会有这病?(我没有贫血问题) |
t******9 发帖数: 270 | 2 最好做一下genetic counseling,a型做血蛋白电泳electrophoresis查不出来。
http://www.aafp.org/afp/2009/0815/p339.html
http://www.aafp.org/afp/2009/0815/afp20090815p339-s1.pdf
Preconception genetic counseling is strongly advised for all persons with
thalassemia. Two parents, each with beta thalassemia trait, have a one in
four chance of conceiving a child with beta thalassemia major and a three in
four chance the child will have thalassemia trait or be normal (Online
Figure A). Persons with alpha thalassemia trait have a more complex pattern
of inheritance. Whether both defective genes are on the same or different
chromosomes will alter the outcome (Online Figure B).
Chorionic villus sampling using polymerase chain reaction technology to
detect point mutations or deletions can identify infants affected with beta
thalassemia. Persons with alpha thalassemia trait should consider prenatal
diagnosis because Hb Bart's increases the risk of toxemia and postpartum
bleeding. Preimplantation genetic diagnosis is becoming available in
conjunction with in vitro fertilization.21 |
W********r 发帖数: 158 | 3 alpha thalassemia has different type: carrier, minor, and major. The gene
mutation is different. Minor and major can be diagnosed on hemoglobin
electrophoresis. Whether the child will have it or not, it depends on the
gene mutation and the partner's genotype.
Easy bruising is not a symptom of thalassemia. I would make sure it is the
right diagnosis at the first place.
【在 s***2 的大作中提到】 : ld(33岁)去年被医生查出患有alpha型轻度地中海贫血,她除了平时容易犯困,磕着 : 碰着皮肤容易瘀青以外,并没有其他明显症状。按当时医生的说法是不要过度劳累就好 : ,而且要注意体重变化,不要下降的太快(过去6个月还重了6lb),当时并没有开药。 : 现在我们打算要孩子,想请教一下各位医生,在备孕和怀孕期间有什么要注意的么?以 : 后的孩子有多大的可能会有这病?(我没有贫血问题)
|
s***2 发帖数: 11 | 4 谢谢两位的回复。
请问检查是去普通的家庭医生那里,还是最好找血液病的专科医生? |
l*****a 发帖数: 1431 | 5 这个病和携带者南方人多见(两广,福建)。多数是由于alpha-hemoglobin gene
deletion造成。如果你妻子的基因型已知,那你需要怀孕前作carrier test。 如果你
是正常aa/aa,最差的情况小孩和你妻子一样。但如果你是携带者-a/aa,那就要看你妻
子的基因型,最差的情况小孩是typical 的alpha地贫。找家庭医生给refer genetic
counselor 或 geneticist吧。
这病在国内常见有很多地方能做gene检测。 |