Apa Itu Thalassemia?

23 02 2015
Apa itu Thalassemia

Skema bagaimana Thalassemia itu diturunkan dari orang tua.

Apa itu Thalassemia? Thalassemia adalah kelainan darah yang diturunkan melalui keluarga (diwariskan). Dimana tubuh membuat bentuk abnormal hemoglobin/HB (protein dalam sel darah merah yang membawa oksigen). Gangguan tersebut mengakibatkan kehancuran yang berlebihan pada sel darah merah yang mengarah ke anemia.

Hemoglobin/HB terdiri dari 2 protein:

  1. alpha globin
  2. beta globin

Thalassemia terjadi bila ada kerusakan dalam gen yang membantu produksi mengontrol salah satu protein.
Thalassemia terbagi 2 jenis utama

  1. alpha thalassemia
  2. beta thalasemia

Alpha Thalassemia terjadi ketika gen / gen yang berhubungan dengan alpha protein hilang/ berubah (bermutasi). Beta Thalassemia terjadi ketika cacat gen yang sama mempengaruhi produksi protein beta globin.

Alpha Thalassemia terjadi paling umum dari orang Asia Tenggara, Timur Tengah, Ciina dan orang keturunan Afrika.
Beta Thalassemia terjadi pada orang asal Mediterania dan lebih sedikit terjadi di Cina, negara Asia lainnya, Afrika-Amerika.

Ada banyak bentuk Thalassemia, setiap jenis memiliki subtype yang berbeda, baik alpha Thalassemia & beta Thalassemia meliputi 2 bentuk

  1. Thalassemia mayor
  2. Thalassemia minor

Thalassemia mayor adalah mewarisi gen thalassemia dari kedua orang tuanya. Thalassemia minor adalah mewarisi gen thalassemia dari salah satu orang tua. Alpha Thalassemia biasanya kematian bayi yang belum lahir saat persalinan atau tahap akhir kehamilan. Anak-anak yang lahir dengan Thalassemia mayor adalah normal saat lahir tetapi akan mendapatkan anemia berat selama tahun pertama kehidupan.

Pengobatan Thalassemia mayor adalah transfusi darah secara teratur. Ada pula transplantasi sumsum tulang belakang dapat membantu mengobati beberapa pasien terutama anak-anak Thalassemia.
Harapan Thalassemia adalah mendapatkan transfusi darah rutin dan terapi untuk menghilangkan zat besi dari tubuh.

Diperlukan Konseling genetik dan skrining prenatal dapat membantu orang dengan riwayat Thalassemia yang berencana untuk memiliki anak.

Thalassemia Dapat Dicegah Penyebarannya
Mereka carrier Thalassemia sebaiknya tidak menikah dengan sesama carrier sebab ada kemungkinan anaknya akan mengalami Thalassemia mayor.

Thalassemia BUKAN Penyakit Menular
Pemerintah menghimbau kepada masyarakat untuk menghindari lebih banyak lagi anak yang memiliki Thalassemia agar memeriksakan diri sebelum menikah. Lemahnya informasi serta kesadaran untuk masyarakat agar memeriksakan diri sebelum menikah juga menjadi kendala untuk menekan Thalassemia menjadi rendah.

Sumber:

http://tipedarah.tumblr.com/post/41746749146/apa-itu-thalassemia

 



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