Diamond-Blackfan anemia

Fakta Perubatan Disemak oleh | Oleh

Kemas kini Tarikh 11/05/2020 . 4 minit bacaan
Share now

Definition

What is Diamond-Blackfan anemia?

Diamond-Blackfan anemia, or DBA, is a type of anemia that’s caused when your bone marrow can’t make enough red blood cells to meet your body’s needs.

How common is Diamond-Blackfan anemia?

Diamond-Blackfan anemia affects approximately 5 to 7 per million liveborn infants worldwide. Please discuss with your doctor for further information.

Symptoms

What are the symptoms of Diamond-Blackfan anemia?

People with DBA have many of the same symptoms as other types of anemia, including fatigue, pale skin, and weakness.

Some children born with DBA also have physical effects to their face and body, such as:

  • A small head
  • Wide eyes and a flat nose
  • Small, low ears
  • Small bottom jaw
  • Short, webbed neck
  • Small shoulder blades
  • Abnormal thumbs
  • Cleft palate or lip

Other symptoms of DBA can include kidney problems, heart defects, and eye problems such as cataracts and glaucoma. Boys can also have hypospadias, a defect that is there from birth, where the opening for their urinary tract isn’t at the tip of their penis.

There may be some symptoms not listed above. If you have any concerns about a symptom, please consult your doctor.

When should I see my doctor?

If you have any signs or symptoms listed above or have any questions, please consult with your doctor. Everyone’s body acts differently. It is always best to discuss with your doctor what is best for your situation.

Causes

What causes Diamond-Blackfan anemia?

Diamond-Blackfan anemia is usually diagnosed when a child is less than a year old. It’s caused by changes, or mutations, in their genes, which are the building blocks of DNA. Sometimes the genetic mutation is passed down from one parent to a child. But sometimes the genes change on their own.

About half of DBA cases have a known genetic cause, but some people don’t know what causes their DBA.

Risk factors

What increases my risk for Diamond-Blackfan anemia?

Please discuss with your doctor for further information.

Diagnosis & treatment

The information provided is not a substitute for any medical advice. ALWAYS consult with your doctor for more information.

How is Diamond-Blackfan anemia diagnosed?

Your doctor can use several tests to find out if your child has DBA, usually before age 1. Children with DBA have a low number of red blood cells, but normal white blood cells and platelets.

Your doctor will likely take a complete blood count, or CBC. It’s a blood test that looks at different parts of blood. This test measures several things, including:

  • The number of red blood cells, white blood cells, and platelets
  • A protein in red blood cells that carries oxygen, called hemoglobin
  • The amount of space the red blood cells take up in blood, or hematocrit
  • The size of the red blood cells

A few other blood tests your doctor can use to help diagnose DBA include:

  • Reticulocyte count. This test measures the number of young red blood cells. It can tell whether your child’s bone marrow is making enough red blood cells.
  • Erythrocyte adenosine deaminase (eADA) levels. About 80% of people with DBA have high levels of an enzyme called adenosine deaminase. This test measures the erythrocyte adenosine deaminase levels (eADA) in your child’s blood.
  • Fetal hemoglobin levels. Fetal hemoglobin is the type of hemoglobin babies have while in the womb. After birth, levels of this hemoglobin should drop. Many children with DBA still have high levels of fetal hemoglobin, even as they get older.
  • Bone marrow aspiration and biopsy. During this test, a small amount of cells and fluid are removed from the bone marrow with a needle. A technician looks at the samples to see how many red blood cells and other cells are in the marrow, and how healthy they are. Children with DBA will have fewer than normal healthy red blood cells in their bone marrow.
  • Genetic tests. These tests check for DBA genes, or genes for other types of anemia that are passed from parents to children.

How is Diamond-Blackfan anemia treated?

Children diagnosed with DBA are able to live long lives with medical treatment. And some go into complete remission, meaning the symptoms disappear for a time.

Two common treatments are blood transfusion therapy and corticosteroid medication. Some people might also consider a bone marrow transplant, although it is riskier. And finding a matching donor is often difficult. You should discuss all options with your doctor.

  • Corticosteroid drugs. Medications like prednisone (Rayos, Sterapred) can help make bone marrow produce more red blood cells.
  • Blood transfusion. If steroid drugs don’t work, or your child’s anemia becomes more severe, a blood transfusion is an option. Whole blood or red blood cells from a healthy donor can take the place of the blood cells your child’s body isn’t making.
  • Bone marrow/stem cell transplant. This treatment replaces damaged bone marrow with healthy stem cells from a donor. It is the only cure for DBA.

Lifestyle changes & home remedies

What are some lifestyle changes or home remedies that can help me manage Diamond-Blackfan anemia?

Please discuss with your doctor for further information.

If you have any questions, please consult with your doctor to better understand the best solution for you.

Hello Health Group tidak memberikan nasihat perubatan, diagnosis atau rawatan.

Adakah artikel ini membantu anda?
happy unhappy
Rujukan

Baca juga:

    Anda mungkin berminat dengan artikel berikut

    Tak Semua Orang Boleh Minum Kopi, Pesakit Anemia Jadi Lebih TERUK Jika Ambil Kafein!

    Minum kopi boleh jadi penyebab anemia? Kopi terkenal sebagai minuman wajib untuk memulakan hari. Namun, benarkah ia boleh sebabkan kekurangan darah?

    Fakta Perubatan Disemak oleh Dr. Gabriel Tang Pei Yung
    Ditulis oleh Fatin Zahra
    Anemia, Pusat Kesihatan 27/07/2020 . 3 minit bacaan

    Nutrisi Dah Cukup Jika Ibu Hamil Makan Vitamin Pranatal, Betul Ke? Ini Yang Anda Patut Tahu

    Ada mengatakan vitamin ibu mengandung penting jadikan badan bertenaga dan kuat. Adakah benar atau sekadar mitos yang menjadi kepercayaan wanita hamil?

    Fakta Perubatan Disemak oleh Dr. Gabriel Tang Pei Yung
    Ditulis oleh Asyikin Md Isa
    Kehamilan, Penjagaan Ibu hamil 05/06/2020 . 3 minit bacaan

    Hati-Hati Bila Ibu Hamil Suka Kunyah Ais, Ini 11 Perkara PENTING Perlu Tahu, #3 Paling BAHAYA

    Sejak hamil anda mempunyai tabiat mengunyah ais? Tiada masalah tetapi apa kata kita selidik kesan pagofagia pada wanita mengandung.

    Fakta Perubatan Disemak oleh Dr. Joseph Tan
    Ditulis oleh Asyikin Md Isa
    Kehamilan, Penjagaan Ibu hamil 28/05/2020 . 3 minit bacaan

    Anemia

    Anemia merujuk kepada keadaan yang menyebabkan tubuh anda mengalami kekurangan sel darah merah yang sihat yang membawa oksigen ke seluruh tubuh

    Fakta Perubatan Disemak oleh Hello Doktor Medical Panel
    Ditulis oleh Muhammad Wa'iz
    Kesihatan A-Z, Kesihatan A-Z 11/12/2019 . 3 minit bacaan

    Artikel lain untuk anda

    fungsi zat besi

    Zat Besi Sangat Penting Untuk Elak Anemia, Ambil Makanan Ini Untuk Tingkat Penyerapan Zat Besi

    Fakta Perubatan Disemak oleh Panel Perubatan Hello Doktor
    Ditulis oleh Muhammad Wa'iz
    Diterbitkan pada 02/11/2020 . 3 minit bacaan
    merancang kehamilan

    Usah Gusar, Penghidap Talasemia Masih Berpeluang Miliki Zuriat, Cuma Kena Tahu Risikonya

    Fakta Perubatan Disemak oleh Panel Perubatan Hello Doktor
    Ditulis oleh Asyikin Md Isa
    Diterbitkan pada 20/10/2020 . 3 minit bacaan
    kerap buang air kecil

    Sudah Berapa Kali Anda Buang Air Kecil Hari Ini? Kalau Terlebih Ini Mungkin Tanda Penyakit!

    Fakta Perubatan Disemak oleh Panel Perubatan Hello Doktor
    Ditulis oleh Asyikin Md Isa
    Diterbitkan pada 11/09/2020 . 3 minit bacaan
    anemia sel sabit

    Anemia Sel Sabit, Penyakit Bahaya Yang Ada Had Umur, Pesakit Boleh Hidup Sampai Usia 40-an?

    Fakta Perubatan Disemak oleh Panel Perubatan Hello Doktor
    Ditulis oleh Fatin Zahra
    Diterbitkan pada 07/09/2020 . 3 minit bacaan