Concern Over Possible Thalassemia in My One-Year-Old Son
During my son’s one-year wellness visit, his hemoglobin level was recorded at a low 9.2 GM/dL, prompting the need for an additional blood test today. It’s important to note that his father has Thalassemia Minor, which adds to my concerns. I received the lab results this evening, but I am aware that the doctor’s office will remain closed throughout the weekend, meaning I won’t hear back until at least Monday. Below are some of the findings I have gathered. As a concerned mother, I couldn’t help but search online for information, and naturally, many findings appeared alarming. Do these results indicate that my son might also have Thalassemia, or could it suggest a different issue? Either way, I will be anxious all weekend until I get in touch with his pediatrician. - Hematocrit (HCT): Low at 33.7% - Mean Corpuscular Volume (MCV): Low at 73 fL - Mean Corpuscular Hemoglobin (MCH): Low at 22.8 pg - Mean Corpuscular Hemoglobin Concentration (MCHC): Low at 31.1 GM/dL - Red Cell Distribution Width (RDW): High at 16.4% - Lymphocytes: 76% - Moderate Microcytes: 2+ - Slight Polychromasia - Abnormal Distribution of Red Blood Cells: Rouleaux If necessary, I can provide the complete test results. Thank you for your support!
Answers (1)
3/22/2025, 12:20:36 AM
OpenHealth AI
It's understandable to feel anxious about your son’s blood test results, especially with concerns about thalassemia given his father's history. The lab findings you provided suggest that there could be a form of anemia present, which may or may not be related to thalassemia.
Key Points:
-
Blood Test Findings: Your son's low hemoglobin and hematocrit levels, along with the low MCV, MCH, and changes in red blood cell distribution, indicate possible microcytic anemia. This kind of anemia can be caused by several factors, including iron deficiency or inherited conditions like thalassemia.
-
Family History: Since his father has thalassemia minor (also known as beta-thalassemia trait), there is a chance that your son may have inherited a similar condition. However, these results alone don't confirm that he has thalassemia; further tests will be necessary for a definitive diagnosis.
-
Other Considerations: The laboratory findings could also suggest different types of anemia or other hematological issues. The presence of microcytes (small red blood cells) and polychromasia could point to a variety of causes that a healthcare provider would evaluate.
Next Steps:
-
Stay Calm and Gather Information: It’s natural to feel worried, but remember that you have the right to get clarity. Keeping a detailed record of your son’s symptoms (if any) and the test results will be useful for the doctor.
-
Monitor for Symptoms: Watch for any additional symptoms in your son, such as fatigue, paleness, irritability, or any signs of jaundice (yellowing of the skin or eyes). These could provide more context for the doctor.
-
Prepare for Follow-Up Appointment: When you speak with your pediatrician on Monday, be prepared to discuss the results comprehensively. Ask about additional tests that may be needed, such as a hemoglobin electrophoresis, which can help determine if there's an underlying condition like thalassemia.
-
Reassess Nutrition: Ensure that your son is getting a balanced diet rich in iron (found in meats, beans, and fortified cereals), as this can help improve his hemoglobin levels.
-
Educate Yourself: While waiting, consider learning about thalassemia and other types of anemia through reputable sources. Understanding these conditions can sometimes help ease anxiety.
Conclusion:
Your concerns are valid, and it’s commendable that you’re seeking to understand your son's health. Focus on carrying out the action steps outlined above while awaiting professional guidance. Please remember that many children with low hemoglobin levels respond positively to treatment once proper care is initiated.
Related Questions
INTENSE Spine Discomfort, Breathing Difficulties, Muscle Twitches, and Sweating
To elaborate on the situation mentioned in the title, I’ve been experiencing unusual muscle twitches and spasms for the past few days, along with some discomfort in my back. However, today, I felt an unexpected sharp pain shoot through my spine, which has left my legs feeling numb and made it impossible for me to sit up straight. Additionally, I’ve been dealing with cold sweats for the last hour and struggling to breathe properly. Perhaps I’m just overanalyzing things and it’s a common occurrence, but the intensity of the pain is overwhelming—it's truly unbearable. I’m shaking quite a bit, and unfortunately, my parents aren’t responding to my attempts to reach them for help. I have a history of a chronic heart condition and arthritis, yet I’ve never experienced pain this severe, especially in my spine. For context, I am nearly 15 years old and female. My current medications include pain relievers, anxiety medication, beta blockers, and some vitamins, though those specifics may not be particularly relevant. I don’t smoke; however, I have tried vaping a few times, which might not matter much, but I thought it was worth mentioning as it was requested.
Understanding Atrial Fibrillation and Thyroid Issues: Variability in Cardioversion Decisions
Hello everyone, I’m reaching out for guidance regarding my mother’s current health situation, and I’d greatly appreciate any shared experiences or thoughts. **My mother's background:** - **Age**: 55 years - **Weight**: Recently dropped to 116 kg from 118 kg in just two days, likely due to diuretics. - **Health history**: Previously an underactive thyroid, undiagnosed and untreated, now presenting as overactive. - **Medications**: Currently taking thyroid medication and a beta-blocker (Rapiblock). **Current health status:** My mother has been hospitalized since Tuesday, experiencing **atrial fibrillation with heart rates exceeding 200** beats per minute due to her thyroid's hyperactivity. - The plan for cardioversion was initially settled on Tuesday. However, the following day, the medical team advised postponing it until her thyroid levels could be stabilized, believing that her heart rate would return to normal once her thyroid condition was managed. - Her **obesity** precludes her from undergoing a transthoracic echocardiogram, and due to her thyroid concerns, she cannot handle contrast dye (this has been a consistent issue for over four years). Therefore, the only feasible option was a **transesophageal echocardiogram (TEE)**, which has yet to be performed. - She has been prescribed various medications including beta-blockers and thyroid treatments in the past. - On Friday, a doctor proposed proceeding with cardioversion; however, the attending senior physician objected. - Today (Saturday), another clinician has expressed a desire to move forward with cardioversion, having initiated a new medication, as the senior physician is unavailable. - **Communication has been unclear**, as we were notified of developments by a nurse rather than the physician in charge, causing confusion and anxiety. - Currently, only a **chest X-ray** is scheduled, and the TEE remains unaddressed. **My inquiries are as follows:** 1. Is it common for medical professionals to have varying opinions and frequently revise medication or treatment plans like cardioversion? 2. Is it safe to conduct cardioversion in the absence of a TEE? I presumed that this was a standard procedure to exclude the presence of blood clots. 3. Is it usual practice to have only a chest X-ray prior to moving ahead with cardioversion? 4. How typical is it for patients or their families to not be directly informed about treatment changes and learn about them through nursing staff instead? I recognize that this cannot substitute for professional medical advice. I’m simply trying to discern whether these circumstances are typical or if we should express our concerns more assertively with the healthcare facility. Thank you for your insights!
7-Month-Old Child with Abernethy Malformation - Exploring Treatment Options
# 7-Month-Old Child with Abernethy Malformation - Exploring Treatment Options ## [7-Month-Old] Identified with Abernethy Malformation (Congenital Portosystemic Shunt) - Treatment Methods? **Age:** 7 months **Gender:** Female **Height:** Age-appropriate **Weight:** Currently 9 kg, was 2.8 kg at birth **Ethnicity:** Asian **Duration of Symptoms:** Present since birth **Location:** Uzbekistan **Pre-existing Health Issues:** Abernethy malformation (congenital portosystemic shunt), liver hemangiomas, chronic jaundice, anemia **Current Treatments:** Supportive management --- ## INITIAL PRESENTATION (June 2025 - July 2025) Our daughter arrived on **June 27, 2025**, presenting with: - Birth weight: **2.8 kg** - Marked jaundice (yellowing of skin and sclera) - Pale or clay-colored stools - **Bilirubin level: 245 μmol/L** (typically <20) An immediate ultrasound indicated multiple liver anomalies, initially thought to be hemangiomas. --- ## FIRST COMPREHENSIVE ASSESSMENT (August 1, 2025 - 1 Month Old) ### Multislice Computed Tomography (MSCT) with 3-Phase Contrast (August 1, 2025): **RESULTS:** - **Portocaval shunt size: 9.9 mm** (blood bypassing the liver into the inferior vena cava) - **Arteriovenous shunt size: 4.4 mm** - **Portal vein size: 6.1 mm** (patent) - **Three nodular cystic lesions** located in the perivascular area, with largest measuring 11.6×20.7 mm, enhancing during the venous phase - Liver features a heterogeneous architecture, exhibiting irregular enhancement - Gallbladder appears elongated and slightly enlarged - Other abdominal organs exhibit normal findings **RADIOLOGIST’S ASSESSMENT:** "Congenital portosystemic shunt indicative of Abernethy malformation; less likely arteriovenous malformation (AVM); cannot dismiss the possibility of localized liver lesions." **ADVICE:** Seek consultations with an abdominal and vascular surgeon. ### Blood Tests (August 1, 2025): **Complete Blood Count:** - WBC: 10.44 × 10⁹/L (normal range) - **RBC: 2.1 × 10¹²/L** (LOW - indicating severe anemia) - **Hemoglobin: 69 g/L** (CRITICALLY LOW; normal is 117-166) - Platelets: 403 × 10⁹/L (elevated) **Biochemistry Analysis:** - Urea: 1.80 mmol/L (normal) - Creatinine: 33.4 μmol/L (normal) - **ALT: >1000 IU/mL** (EXTREMELY HIGH - severe liver dysfunction) --- ## FOLLOW-UP IMAGING (December 16, 2025 - 5.5 Months Old) ### Liver Ultrasound: **RESULTS:** - Right lobe: 64 mm, left lobe: 43 mm - Liver capsule appears irregular and vague - **Parenchyma: heterogeneous, showing 7 hypo-isoechoic nodules** (sizes range from 11.5×10.7 mm to 17.6×15.4 mm) - Capsule features uneven contours - Blood flow noted during Doppler examination - No dilation in intrahepatic bile ducts - **Portal vein: 3.9 mm** (decreased from 6.1 mm - indicating improvement) - Common bile duct: 1.4 mm - Gallbladder: measures 43.7×9.2 mm (pear-shaped, wall thickness 2.0 mm, homogeneous, free of stones) **ULTRASOUND ASSESSMENT:** "Presence of liver volumetric formations (specifically liver hemangiomas)." --- ## LATEST MSCT (February 6, 2026 - 7 Months Old) ### MSCT with 3-Phase Contrast: **FINDINGS:** - Liver remains normal in size, but shows heterogeneous structure with uneven contrast enhancement - **Portocaval shunt: 9.9 mm** (no change, continues to drain directly into the inferior vena cava avoiding liver acinus) - **Arteriovenous shunt: 4.4 mm** (no alteration) - **Three nodular cystic lesions** in perivascular space, maximum size 11.6×20.7 mm, enhancing in the venous phase - **Portal vein: 6.1 mm** (noted during porto-venous phase) - Arteries show no filling abnormalities - Intrahepatic bile ducts remain non-dilated - Gallbladder is elongated and slightly bigger, free from stones - Pancreas: normal - Spleen: measures 66.9×38.5 mm (not enlarged), splenic vein is 3.6 mm - Kidneys: normal placements and structure - No excess fluid detected in the abdominal cavity - No visible changes in lymph nodes **MSCT ANALYSIS:** "Congenital portosystemic shunt indicative of Abernethy malformation, unlikely to be AVM, presence of focal liver lesions cannot be ruled out." **RECOMMENDATION:** Engage with an abdominal and vascular surgeon. --- ## RECENT BLOOD WORK (December 2025 - January 2026) ### Complete Blood Count (January 19, 2026): - WBC: 5.8 × 10⁹/L (SHOWS IMPROVEMENT) - **RBC: 2.93 × 10¹²/L** (IMPROVED but still low) - **Hemoglobin: 72 g/L** (SHOWS IMPROVEMENT but still low) - Platelets: 223 × 10⁹/L (BACK TO NORMAL) - Neutrophils: 30.0% - Lymphocytes: 64.8% - Monocytes: 4.6% ### Biochemistry (January 28, 2026): - Total protein level: 67 g/L (slightly deficient) - Creatinine: 20.7 μmol/L - **Total Bilirubin: 242 μmol/L** (STILL HIGH - unchanged) - **Direct Bilirubin: 142 μmol/L** (VERY HIGH) - **ALT: 50 IU/mL** (DRASTICALLY LOWER from >1000!) --- ## OVERVIEW OF PROGRESS OVER 6 MONTHS | Parameter | August 2025 | January 2026 | Change | |------------------|-------------|---------------|--------------------------| | **Hemoglobin** | 69 g/L | 72 g/L | ↗ Slight improvement | | **RBC** | 2.1 | 2.93 | ↗ Improved | | **ALT** | >1000 | 50 | ✓✓ MAJOR IMPROVEMENT | | **Bilirubin** | 245 | 242 | → Unchanged (still elevated) | | **Portal vein** | 6.1 mm | 3.9 mm (US) | ↗ Decreased | | **Platelets** | 403 | 223 | ↘ Normalized | | **Shunt size** | 9.9 mm | 9.9 mm | → No Change | --- ## CURRENT SITUATION (February 2026 - 7 Months Old) - **Weight:** 9 kg (good growth rate in spite of condition) - **Jaundice:** Continues to be present (yellow skin) - **Stools:** Remain pale/clay-colored - **Development:** Achieving appropriate milestones - **Energy:** Appears to have a good energy level - **Feeding:** Normal appetite --- ## QUESTIONS FOR r/AskDocs We have been informed this is **Type 2 Abernethy malformation** (portal vein present). **Three treatment avenues have been proposed:** ### Option 1: **Endovascular Coil Embolization** (minimally invasive approach) - A catheter is inserted via the leg vein to access the shunt and deploy coils/plugs to close the abnormal vessels - Pros: No surgical incision, minimal discomfort, short hospital stay (2-4 days), no scars, enhanced safety - Duration: 1-2 hours - Recovery: 2-4 weeks for jaundice to show improvement ### Option 2: **Open Surgical Intervention** - An incision in the abdomen to ligate abnormal vessels and redirect blood to the liver - Pros: Direct visualization, effective results - Cons: Surgical scar, longer recovery time (7-14 days in hospital) - Duration: 2-4 hours ### Option 3: **Liver Transplantation** - We have been advised this is not necessary as the portal vein is functional and liver health is improving. --- ## SPECIFIC QUESTIONS TO CONSIDER: 1. **With a functional portal vein (6.1 mm) and improving liver function (ALT normalized), is it advisable to pursue endovascular closure as the preferred treatment?** 2. **Despite ALT levels improving, the bilirubin remains consistently high (242). Should this be a cause for concern? Is there a prospect for it to normalize post shunt closure?** 3. **Are the hemangiomas/nodules (11.6×20.7 mm) linked to the shunt? Will they likely resolve following shunt repair?** 4. **How urgent is the proposed intervention? Is immediate action required, or is there flexibility to wait a few months?** 5. **What complications should we be vigilant for during the waiting period?** 6. **Regarding endovascular closure - what is the average success rate for infants aged 7 months? Are there concerns regarding the shunt size (9.9 mm)?** 7. **The measurement of the portal vein has shown improvement from 6.1 mm to 3.9 mm; should this be perceived as a positive sign or a reason for concern?** 8. **Are there special directives (diet modifications, medications) we should consider while awaiting the procedure?** 9. **Post-procedure, how long should we expect it might take for:** - Normalization of bilirubin levels? - Return of stool color to normal? - Resolution of jaundice? - Regression of hemangiomas? 10. **Can you recommend any specialized centers for pediatric Abernethy malformation treatments? We are located in Uzbekistan but are prepared to travel (to Turkey, Russia, South Korea, etc.)** --- ## ADDITIONAL INFORMATION - No family history of hepatic diseases - Pregnancy and delivery were normal - No additional congenital defects identified - Immunizations up to date - No history of bleeding disorders - No signs indicative of encephalopathy - Child is alert and engaged --- **I can supply actual MSCT images and comprehensive lab reports if they would be of assistance.** We sincerely appreciate any insights you can provide. We are striving to make the most informed decision regarding our daughter’s care and highly value expert medical opinions. **TL;DR:** 7-month-old diagnosed with Abernethy Type 2 malformation (9.9 mm portocaval shunt, patent portal vein). Liver functionality is improving (normalized ALT) while bilirubin remains elevated (242). Evaluating options between endovascular coil embolization and open surgery. Seeking expert advice on optimal treatment strategy and timing.
Battling Chronic Nausea and Vomiting for Over Two Years
For the past two years, I (age 26, female) have been enduring an incredibly challenging health situation. I experience intense nausea daily and find myself vomiting numerous times, with almost nothing providing relief. To provide some background, I’m from West Texas and I currently weigh around 190 pounds, standing at 5’7”. Initially, my weight was about 211 pounds when these symptoms began, and it fluctuates frequently between 190 and 225 pounds. I engage in vaping and consume THC. Previously diagnosed with hypothyroidism, my condition seemingly resolved, according to my healthcare providers. Additionally, I have polycystic ovarian syndrome (PCOS). I have consistently faced irregular bowel movements, with stools that are loose and sometimes appear to have mucus. Compounding my struggles, I've also suffered from migraines. I have had an IUD for over five years, experiencing two insertions of the Kyleena device. In December 2022, my battle with health took a severe turn when I was diagnosed with stage 4 Hodgkin’s Lymphoma, requiring chemotherapy treatment, specifically AVBD (Apologies for not recalling the exact medication names). By July 2023, I had fortunately achieved remission. However, after reaching remission, my vomiting worsened, transforming from primarily white foam to a mixture of 80% bile, any food I attempt to consume, and still white foam. This intense vomiting, accompanied by significant pain in my upper back, escalated to more than eight episodes daily by November 2023. At that time, THC seemed to be the only avenue for me to retain any food. During this tumultuous period, I consulted various doctors who, after confirming I wasn’t pregnant, attributed my symptoms to Cannabinoid Hyperemesis Syndrome (CHS). Immediately, I ceased THC consumption for over six months, yet the vomiting continued unabated. Each time, doctors would prescribe ondansetron, regardless of my claims that it provided no relief. I experimented with various diets recommended by medical professionals, but there were no improvements in my condition. Eventually, I obtained a referral to a gastroenterologist who intended to perform an endoscopy. However, the procedure was prohibitively expensive even with insurance, and thus was never conducted. This doctor also ordered blood tests to rule out several gastrointestinal disorders, such as Crohn's disease, Irritable Bowel Syndrome (IBS), and gluten sensitivity, but all results came back normal. Afterward, I had another appointment with a different gastroenterologist, but the doctor failed to meet with me. Instead, a nurse informed me that the doctor had merely recommended promethazine without conducting any tests or scheduling further visits. When I mentioned the possibility of gallbladder issues, the doctor laughed dismissively at my suggestion. Discussing my situation with my oncologist, he suggested that my heightened sensitivity to food odors stemmed from my chemotherapy experiences while I was working in fast food. While food smells indeed affect me, I'm primarily triggered by medical scents such as rubbing alcohol and cleaning agents. This ongoing ordeal has been overwhelmingly distressing. I now experience episodes of vomiting accompanied by bright red blood, presumably due to a throat tear. When I first encountered this troubling symptom, I consulted a doctor who appeared unfazed and prescribed a promethazine suppository, which does help but makes me extremely drowsy. My nausea persists nearly around the clock, often feeling as if there’s a heaviness in the upper part of my abdomen. I frequent urgent care facilities when my symptoms intensify, only to be met with minimal assistance since this is a chronic issue. Currently, I lack a primary care physician. Whenever I sought one, I encountered skepticism regarding my condition, with some healthcare professionals implying that I was exaggerating my symptoms. Though many physicians who do take my situation seriously seem baffled, I've lost count of the diverse medical experts I've consulted about these ongoing issues. If anyone has insight or suggestions, I would genuinely appreciate it. I can share my latest bloodwork results if that would be helpful—just let me know!
Strange Stomach Sensation Leading to Waking Up
Greetings. I'm a 36-year-old male, standing at 172 centimeters and weighing 90 kilograms. I don't take any medications, nor do I smoke. I've been living with diastasis recti for several years now, and I may also have irritable bowel syndrome (IBS). Additionally, I deal with fatty liver and kidney stones, though I assume these last two conditions are not related to my current concern. Occasionally, I experience a peculiar sensation that jolts me awake; it feels like a quick pulsing in my stomach. I’ve noticed it tends to affect the left side when I’m lying on my left side and the right side when on my right. Remarkably, it can occur even when I’m on my back. This strange feeling often escalates into a surge that fully rouses me. Alongside this, I sometimes feel prickling sensations throughout my body and fleeting lightheadedness. When this sensation disturbs my sleep while I’m turned to my side, shifting onto my back or the opposite side might alleviate it, but not always. In instances where I awaken while lying on my back, I discovered that gently pressing my hands on either side of my stomach can help, as can rising to a sitting or standing position. However, during my last two episodes—one a couple of weeks ago and another tonight—those techniques weren’t effective right away, which made me feel a bit anxious, prompting me to seek advice. Does anyone have insight into what might be going on? By the way, I’ve undergone routine ultrasound examinations of my abdomen by two different physicians during check-ups, both of whom assured me that everything appears normal, including my abdominal aorta and internal organs. They didn’t identify any issues at that time.