Anyone been diagnosed with CDA type 2 anemia or know someone who is?

Welcome to Connect, @mjha. I’ve looked through our member discussions for any reference to this hereditary type of anemia. At this time I wasn’t successful but when a disease is rare it can type a little while for people to see it and respond.

However I as able to find a fair amount of information on Congenital dyserythropoietic anemia type 2 (CDA II) with descriptions of the hereditary aspect of the disease, symptoms and potential treatments based on the severity of the condition. Symptoms may appear as early as childhood.

According to the Boston Children’s Hospital, treatments can include:
>blood transfusions and apheresis.
>medications, such as iron chelating agents or interferon alpha-2A (only in CDA type I)
>selected surgical procedures (removal of the spleen and/or gallbladder), when required
>stem cell transplant — the only definitive cure, available to patients with very severe CDA

Here are several sites for you to read through to gather a little more knowledge of this type of anemia.
~From the National Institute of Health-Genetic and Rare Disease Center: https://rarediseases.info.nih.gov/diseases/2001/congenital-dyserythropoietic-anemia-type-ii

~From Ash Publications: https://ashpublications.org/blood/article/136/11/1274/461553/Congenital-dyserythropoietic-anemias

From Boston Children’s Hospital: https://www.childrenshospital.org/conditions/congenital-dyserythropoietic-anemia

Is this a new diagnosis for you or a family member? What has been discussed with your doctor?

Hi Lori, thank you for sharing these helpful resources. My brother (living in India) has been diagnosed with CDA type 2 anemia last month. Since 2023 December he is requiring blood transfusion every 2 to 3 weeks. Doctor's advice includes transfusion, T folvite 5mg, iron chelation and splenectomy. Finding blood donation is becoming increasingly difficult, currently his hemoglobin is 4.8, we are working with several volunteer organizations to find 3 units of blood he desperately needs. We are worried how sustainable it is in the long run since finding blood donation every couple of weeks is extremely hard.
Splenectomy seems scary since he is weak and diabetic. Was wondering if there are other ways to treat the enlarged spleen which in turn could alleviate the hemoglobin situation.
I have read about low dose splenic irradiation, steroid treatment, partial splenectomy as well as Apheresis however don't know if any of these are right options for my brother.
One of the articles you have shared mentions clinical trials for some drugs but don't think it is available in India.
Struggling to find the right course of action.

Oh, you’re poor brother. Having a hemoglobin that low is debilitating! I’m so sorry there’s such a challenge finding the right blood type so he can get transfusions.

Unfortunately those of us in the forum aren’t medical professionals so we’re not able to diagnose and offer treatments. I have no personal experience with this type of anemia. But I’m familiar with the side effects of anemia, splenic involvement, transfusions, with an aggressive form of leukemia. I will be thinking of your brother and wishing only the best for him.

Would your brother have access to a larger teaching hospital or university? They sometimes have a much deeper bench of medical specialists who will be able to assess your brother and offer treatments for him.

Since CDA type 2 anemia is hereditary is anyone else in your family being tested or showing symptoms?

Hi Lori, Thank you for your kind words. I would welcome any input from the forum members on treatments that might have worked in similar situations. For example, treatment for splenomegaly which might have worked well for someone, just looking to learn from their experience.
He got his diagnosis and treatment recommendations from one of the largest teaching hospitals there, however it is not close and extremely crowded. Going back there is part of our plan once he is ok to travel.
So far no one else in the family is exhibiting the symptoms. Thanks again.

My heart goes out to you, your brother and family. There’s nothing more distressing than seeing a loved one suffer and not be able to offer comfort. I hope he’s able to find a compatible blood source soon to help boost his hemoglobin while waiting to find a long term solution for his failing health.
I did a search through our forum for references to splenectomy for anemia and found only one entry with @ngm01 in this discussion: https://connect.mayoclinic.org/comment/766994/

His situation wasn’t the same as your brother’s but perhaps he can share his experience after the splenectomy.

There are other references to splenomegaly and splenectomies but not in relation to CDA type 2 anemia, they’re more cancer related. If you’d like to read through some of them, choose your topic such as splenomegaly or splenectomy, or splenectomy for anemia, etc., in the top search bar and all the conversations will show up for you.

I’m sorry I can’t be of more help to you in finding answers. I’m hoping others will see your post and jump into the conversation with information that would be useful to help your brother.
You’re a wonderfully thoughtful brother and I wish only positive news for your brother. Will you keep in touch to let me know how he’s doing, please?

I wonder if there are any clinical trials in which your brother could participate. I read about a drug being studied called sotatercept that is showing promise in CDA II. If no trials are ongoing in India, you might search for one in US (clinicaltrials.gov) if travel to US is possible. I do hope blood becomes more available and a treatment option is chosen that’s successful. Bless you for advocating for him and trying to help!

Thank you, I will research availability of sotatercept in India.
Out of three units of blood he requires, we have managed to get only one unit so far. Thank you for your best wishes. I truly appreciate the support.

You have been a great help Lori. I can use all the resources and advice. I will research splenectomy options and alternatives as well as clinical trials.
Any help on how to obtain blood units for transfusion on regular basis would be great. Out of 3 units of blood he needs, we have managed to get only one so far. Information and advice about any programs that can help with the recurring blood need will be helpful as well if any of the forum members have any.
Thanks again.

Hello @mjha, I’ve been thinking about your brother and wanted to check in with you to see how he is doing. Hopefully he’s been able to get the transfusions he’s so desperately needs. Have his doctors been able to come up with a treatment option for him?

Hi Lori,
Thanks for checking in. My brother is about the same, had the latest transfusion today. Finding blood continues to be a struggle. Still looking for long term viable options for getting blood on regular basis. He is taking medication to manage the iron overload, other than that only folic acid and b12 supplement as prescribed by his doctor. No easy treatment options yet, he will go for a follow up and ask about the splenectomy option (other than transfusion and supplements this was the only other option). I haven't found any clinical trial which could be accessible to him. Interested in learning about any success others have had with any kind of treatment options drugs, surgery, natural medicine, laser therapy, supplements or anything else. Is getting a second opinion online a good idea - I was searching and saw a couple - one from Cleveland clinic for example where you can upload the reports and pay a fee of $2500. I am really looking for some non-invasive, safe options given his weak condition, diabetes etc.
Thank you Lori.
Madhuri