THALASSEMIA : APA YANG MOMMY TAHU TENTANG INI?
Pada 14.6.2014 yang lalu, Mommy sebenarnya dah dapat info secara x rasmi keputusan DNA analysis untuk Ariq. Ariq bebas dari sebarang kaitan dgn Talasemia. DNA analysis nih dibuat pada 16.4.2014 untuk kesan masalah dalaman Ariq.
Entry ni sangat penting bagi mereka yang nak tahu info penting mengenai Alpha Thalassemia.
History secara ringkas:
– prolonged jaundis (dari age 3 hari berlarutan selama 2 bulan umurnya).
– sangkut isu ALP bila dpt result diagnosis [ada abnormalities of alkaline phosphatase (ALP)]. ALP beliau tinggi sangat dan sebab ini lah kena keep on ada appointment dgn paed hosp Ampang utk check darah & result ALP sehingga capai paras normal.
– masa AE 9m (10.10.2013), ada pegi buat check up sebab beliau agak cranky dari 6m+. Ingatkan normal. Memang ada la demam2 biasa setiap bulan.
– tapi, kena admit ward masa refer kt hosp Ampang bila dorg detect ariq kinda pale, n nampak lemah & cranky sbb takut terlalu berusaha dptkan oksigen. Oksigen kenapa? bila kekurangan darah merah, body kena berusaha kuat utk dapatkan oksigen. Mmg kalut nurse & doc that day, while mommy daddy jadi blur like “apa benda depa kalut sgt nih”
– Ariq kompem anemia masa tu sebab HB waktu tu cuma 6 (very low). Normal 12. Average 10.
– pemindahan darah perlu dibuat sebanyak 68ml.
– setiap kali demam selepas itu, mommy sentiasa akan check HB. Alhamdulillah, x pernah drop dah dari 10.
– still on iron supplemen & folic acid selama 2 bulan
– sehingga pada 14.6.2014 yang lalu, AE demam 3 hari. Mommy check again HB beliau. Normal. Dan masa tu ternampak result 16.4.2014 yang sudah siap doc ckp. Tapi sebenarnya, kalau ikutkan, Mommy x boleh suh doc tu explen pun. Sebab Mommy perlu refer pakar untuk info lebih tepat. Bukan doc kat emergency tu.
– doc tu cakap, AE fine. xde talasemia bagai. Sampai rasa macam malas nak pegi appointment semalam (24.7.2014)
Menurut keterangan doktor pakar (paed) tersebut, DNA Analysis utk kes AE menunjukkan AE ada alpha thalassemia minor. Jauh beza dari jawapan yang kami dapat masa bulan 4 yang lalu.
Treatment : on folic acid & multivitamins sahaja.
(p/s: Ibu2 preg perlu gigih dan patut makan dengan supplemen yang perlu masa preggy ya (supplemen yang diarahkan doktor). tp kalau kehendak Allah mcm ni, makan la apa pn, nak jadi, tetap jadi. Lagipun, Talasemia bukan terjadi secara tiba2. Ia keturunan)
Untuk pengetahuan kalian, Talasemia terbahagi kepada 2 iaitu:
Beta Thal nih yang jenis kena tambah darah selalu tu. Penyakit la. Bukan Carrier. Mommy xnak diskus pasal Beta Thal kat sini sebab xde kaitan.
(Beta Thal nih penyakit @ thalassemia disease @ ada juga panggil Thalassemia Major)
Source : uofmchildrenshospital
So, Ariq Emir, menurut doktor, tergolong dalam golongan Thalassaemia Minor. Individuals with Thalassaemia Minor are ‘carriers’ of the disorder. They are healthy and normal but some may have slight anaemia. (remember AE ada kes Anemia kan? Walau sekejap)
Alpha thalassemia is an inherited blood disorder. People with alpha thalassemia have a low number of red blood cells and red blood cells that are smaller than normal. Normal red blood cells have a component called hemoglobin that carries oxygen to the body’s tissues. Some people with alpha thalassemia experience anemia, or low levels of hemoglobin. Taking iron supplements to treat the anemia caused by alpha thalassemia will not improve symptoms and is discouraged. (sebab tu AE kena stop dah amek iron baru2 nih)
Types of alpha thalassemia
- Silent carrier – This type occurs when there is only one abnormal gene. It is unlikely to cause health problems.
- Alpha thalassemia trait/minor – This type occurs when there are two abnormal genes. It may affect the size of the RBCs and cause mild anemia. – (AE jenis ni)
- Hemoglobin H – This type occurs when there are three abnormal genes. It is more likely to affect the RBCs and cause moderate to severe anemia. It can also lead to other problems in the body.
- Alpha thalassemia major – This type occurs when there are four abnormal genes. It is very rare. A child with this condition is not likely to survive. (slalunya kes gugur)
People with all types of alpha thalassemia can pass it on to their children. Additionally, parents with a mild form of alpha thalassemia can have a child with a severe form. It is important to find out which type of alpha thalassemia your child has and talk with your doctor about what that might mean for your other children and future pregnancies. (source : uofmchildrenshospital, newbornscreening)
Treatment for alpha thalassemia may include:
- Daily doses of folic acid (semalam doc on supplemen FA & Multivits)
- Blood transfusions (as needed) and iron chelation (removal of iron) therapy due to iron overload
- Surgical removal of the spleen (if necessary)
- Allogeneic stem cell transplantation (source : urmc)
Alpha thalassemia is not contagious. You cannot get alpha thalassemia from living with, touching, or spending time with a person with alpha thalassemia. Likewise, there is no way to “cure” alpha thalassemia.
Symptoms of alpha thalassemia?
Symptoms can be temporary or chronic (on-going or long-term). It is important to be educated about the symptoms so that they can be properly managed. The symptoms that a person has depend on the type of alpha thalassemia they have. Alpha thalassemia will not affect a child’s growth, development, intelligence, or ability to learn. You cannot tell that someone has alpha thalassemia by looking at them.
- People with alpha thalassemia may experience varying degrees of anemia.
- The baseline level of anemia will remain constant throughout a person’s lifetime. It is not expected to get worse or improve.
- If your child has a blood test done, it will likely show that he or she has small red blood cells. The expected size of the cells depends on which type of alpha thalassemia a person has.
- Even with mild anemia, children with alpha thalassemia can usually participate in sports and other physical activities.
Silent Carrier and alpha thalassemia trait (Ariq this part. Trait tu minor la)
- Alpha thalassemia silent carrier and trait are not illnesses and will not make your child sick in any way. It is not expected that individuals with silent carrier and alpha thalassemia trait have fatigue, low energy, or lack of stamina.
Most children with hemoglobin H are generally healthy. Some may experience mild to moderate anemia. Signs of anemia include:
- Fatigue (feeling tired or weak)
- Shortness of breath
- Cold hands or feet
- Pale skin
- Chest pain
- Contact your doctor if you think that your child might be experiencing signs of anemia.
Hemoglobin H will not cause a child to get sick more frequently than other children. However, illnesses may last longer or make a child more sick than other children. Also, during times of illness, they may require a blood transfusion. Some children with hemoglobin H have other complications, including gallstones and a larger than expected spleen. Therefore, these children are followed more closely by their doctor. It is recommended that they see a hematologist, or blood specialist, yearly.
p/s: DNA Analysis tu akan tunjuk jenis Alpha Thal mana yg kita suffer. So, rujuk kepada “Types of alpha thalassemia” di atas.
Alpha thalassemia major
Most babies with alpha thalassemia major do not survive until birth or are stillborn. In the rare cases of babies that do survive, they require frequent blood transfusions and medical care. Alpha thalassemia major can be detected on ultrasound in the second-third trimester of pregnancy. A hallmark ultrasound finding that indicates that a baby may have alpha thalassemia major is hydrops fetalis, an accumulation of fluid in the baby.
What is the treatment for alpha thalassemia?
The type of treatment that a child needs depends on the type of alpha thalassemia that he or she has. It is very important that the parents make sure that their family doctor knows that their child has alpha thalassemia.
- Silent carrier and alpha thalassemia trait Children with mild alpha thalassemia do not require any treatment. However, they may have a chance of having a child with more severe alpha thalassemia. When your child reaches an appropriate age, it is important to let him or her know that he or she can pass alpha thalassemia on to their children. (suh cari pasangan yg xde keturunan Talasemia)
- Hemoglobin H Children with hemoglobin H should have regular medical care to detect and treat any symptoms that may occur. It is recommended that they see the hematologist yearly. Some children with hemoglobin H may need blood transfusions after a severe illness. A small number of children with hemoglobin H need frequent blood transfusions. Other rare complications may require additional treatment. It is recommended that children with hemoglobin H take folic acid routinely.
Selanjutnya sila BACA DI SINI & newbornscreening (wajib baca)
Alpha thalassemia trait are not illnesses and will not make your child sick in any way.
Alpha thalassemia is not contagious. You cannot get alpha thalassemia from living with, touching, or spending time with a person with alpha thalassemia. Jadi, jangan la ingat pelik2 plak. Ianya keturunan.
ok. Bercakap bab keturunan, ini memang pelik. Sebab? Kami x pernah diagnos dgn test gini. So, kami 4 beranak akan buat screening November nanti, 3 hari sebelum 2nd birthday Ariq Emir. Risiko jika bersalin lagi, anak ketiga mungkin kena atau mungkin x mewarisi perkara ini. So, memang kena buat analisis jugak no matter what.
Face the fact!
ae nanes kena cucuk amek drh
Baca sumber lain:
Kesan penyakit Talasemia
Regards, Mommy Hannah Damia & Ariq Emir