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@loribmt

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?

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Replies to "Welcome to Connect, @mjha. I’ve looked through our member discussions for any reference to this hereditary..."

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.